Canonical Allele Identifier: CA536639734

Gene: NEB RIF1

Linked Data

• dbSNP Id: rs1178730721
• gnomAD v2: 2-152354091-T-G
• gnomAD v3: 2-151497577-T-G
• gnomAD v4: 2-151497577-T-G
• MyVariant Identifiers: chr2:g.152354091T>G (hg19) ; chr2:g.151497577T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151497577T>G , CM000664.2:g.151497577T>G	GRCh38
NC_000002.11:g.152354091T>G , CM000664.1:g.152354091T>G	GRCh37
NC_000002.10:g.152062337T>G	NCBI36
NG_009382.2:g.241911A>C , LRG_202:g.241911A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434685.6:c.3075-5083A>C (NEB)
ENST00000688578.1:c.900-544A>C (NEB)
ENST00000690043.1:c.6378-3324A>C (NEB)
ENST00000693000.1:n.2657-5083A>C (NEB)
ENST00000397345.8:c.24300+49A>C (NEB) MANE Select	ENSP00000380505.3:n.24300+49A>C
ENST00000427231.7:c.24300+49A>C (NEB) MANE Plus Clinical	ENSP00000416578.2:n.24300+49A>C
ENST00000172853.14:c.18826-1209A>C (NEB)	ENSP00000172853.10:n.18826-1209A>C
ENST00000397337.6:c.701+49A>C (NEB)
ENST00000397345.7:c.24300+49A>C (NEB)	ENSP00000380505.3:n.24300+49A>C
ENST00000409198.5:c.18826-1209A>C (NEB)	ENSP00000386259.1:n.18826-1209A>C
ENST00000413693.5:c.8026-1209A>C (NEB)	ENSP00000410961.1:n.8026-1209A>C
ENST00000421461.6:c.736+49A>C (NEB)
ENST00000424585.1:c.610-544A>C (NEB)	ENSP00000404876.1:n.610-544A>C
ENST00000427231.6:c.24300+49A>C (NEB)	ENSP00000416578.2:n.24300+49A>C
ENST00000434685.5:c.1395-3324A>C (NEB)
ENST00000454583.6:c.2754-1768T>G (RIF1)
ENST00000457745.1:n.579-209T>G (RIF1)
ENST00000484077.1:n.353-209T>G (RIF1)
ENST00000498015.2:n.226-5083A>C (NEB)
ENST00000603639.5:c.24300+49A>C (NEB)	ENSP00000473894.1:n.24300+49A>C
ENST00000604864.5:c.24300+49A>C (NEB)	ENSP00000474498.1:n.24300+49A>C
ENST00000618972.4:c.24405+49A>C (NEB)	ENSP00000484342.1:n.24405+49A>C
NM_001164507.1:c.24300+49A>C (NEB)	NP_001157979.1:n.24300+49A>C
NM_001164508.1:c.24300+49A>C (NEB)	NP_001157980.1:n.24300+49A>C
NM_001271208.1:c.24405+49A>C , LRG_202t1:c.24405+49A>C (NEB)	NP_001258137.1:n.24405+49A>C
NM_004543.4:c.18826-1209A>C (NEB)	NP_004534.2:n.18826-1209A>C
XM_005246590.1:c.24207+49A>C (NEB)	XP_005246647.1:n.24207+49A>C
XM_005246591.1:c.24207+49A>C (NEB)	XP_005246648.1:n.24207+49A>C
XM_005246592.1:c.24300+49A>C (NEB)	XP_005246649.1:n.24300+49A>C
XM_005246593.1:c.24300+49A>C (NEB)	XP_005246650.1:n.24300+49A>C
XM_005246594.1:c.24207+49A>C (NEB)	XP_005246651.1:n.24207+49A>C
XM_005246595.1:c.24207+49A>C (NEB)	XP_005246652.1:n.24207+49A>C
XM_005246596.1:c.24114+49A>C (NEB)	XP_005246653.1:n.24114+49A>C
XM_005246597.1:c.24300+49A>C (NEB)	XP_005246654.1:n.24300+49A>C
XM_005246598.1:c.24300+49A>C (NEB)	XP_005246655.1:n.24300+49A>C
XM_005246599.1:c.24021+49A>C (NEB)	XP_005246656.1:n.24021+49A>C
XM_005246600.1:c.24021+49A>C (NEB)	XP_005246657.1:n.24021+49A>C
XM_005246601.1:c.23929-544A>C (NEB)	XP_005246658.1:n.23929-544A>C
XM_005246602.1:c.23928+49A>C (NEB)	XP_005246659.1:n.23928+49A>C
XM_005246603.1:c.23929-1209A>C (NEB)	XP_005246660.1:n.23929-1209A>C
XM_005246604.1:c.23929-544A>C (NEB)	XP_005246661.1:n.23929-544A>C
XM_005246606.1:c.23928+49A>C (NEB)	XP_005246663.1:n.23928+49A>C
XM_005246608.1:c.23929-3324A>C (NEB)	XP_005246665.1:n.23929-3324A>C
XM_005246610.1:c.23836-3324A>C (NEB)	XP_005246667.1:n.23836-3324A>C
XM_005246611.1:c.24021+3814A>C (NEB)	XP_005246668.1:n.24021+3814A>C
XM_005246612.1:c.23571+49A>C (NEB)	XP_005246669.1:n.23571+49A>C
XM_005246613.1:c.23571+49A>C (NEB)	XP_005246670.1:n.23571+49A>C
XM_005246615.1:c.23928+49A>C (NEB)	XP_005246672.1:n.23928+49A>C
XM_005246616.1:c.*647A>C (NEB)	XP_005246673.1:n.*647A>C
XM_005246617.1:c.21384+49A>C (NEB)	XP_005246674.1:n.21384+49A>C
XM_006712541.1:c.23929-1209A>C (NEB)	XP_006712604.1:n.23929-1209A>C
XM_006712542.1:c.24021+49A>C (NEB)	XP_006712605.1:n.24021+49A>C
XM_011511224.1:c.24207+49A>C (NEB)	XP_011509526.1:n.24207+49A>C
XM_011511225.1:c.23743-3324A>C (NEB)	XP_011509527.1:n.23743-3324A>C
XM_011511226.1:c.22113+49A>C (NEB)	XP_011509528.1:n.22113+49A>C
XM_011511227.1:c.19926+49A>C (NEB)	XP_011509529.1:n.19926+49A>C
XR_922955.1:n.7838+14242T>G (RIF1)
XR_922956.1:n.7937-209T>G (RIF1)
XR_922957.1:n.7839-209T>G (RIF1)
XM_005246590.2:c.24207+49A>C (NEB)	XP_005246647.1:n.24207+49A>C
XM_005246591.2:c.24207+49A>C (NEB)	XP_005246648.1:n.24207+49A>C
XM_005246592.2:c.24300+49A>C (NEB)	XP_005246649.1:n.24300+49A>C
XM_005246593.2:c.24300+49A>C (NEB)	XP_005246650.1:n.24300+49A>C
XM_005246594.2:c.24207+49A>C (NEB)	XP_005246651.1:n.24207+49A>C
XM_005246596.2:c.24114+49A>C (NEB)	XP_005246653.1:n.24114+49A>C
XM_005246597.2:c.24300+49A>C (NEB)	XP_005246654.1:n.24300+49A>C
XM_005246598.2:c.24300+49A>C (NEB)	XP_005246655.1:n.24300+49A>C
XM_005246599.2:c.24021+49A>C (NEB)	XP_005246656.1:n.24021+49A>C
XM_005246601.2:c.23929-544A>C (NEB)	XP_005246658.1:n.23929-544A>C
XM_005246602.2:c.23928+49A>C (NEB)	XP_005246659.1:n.23928+49A>C
XM_005246603.2:c.23929-1209A>C (NEB)	XP_005246660.1:n.23929-1209A>C
XM_005246604.2:c.23929-544A>C (NEB)	XP_005246661.1:n.23929-544A>C
XM_005246606.2:c.23928+49A>C (NEB)	XP_005246663.1:n.23928+49A>C
XM_005246608.2:c.23929-3324A>C (NEB)	XP_005246665.1:n.23929-3324A>C
XM_005246610.2:c.23836-3324A>C (NEB)	XP_005246667.1:n.23836-3324A>C
XM_005246611.2:c.24021+3814A>C (NEB)	XP_005246668.1:n.24021+3814A>C
XM_005246612.2:c.23571+49A>C (NEB)	XP_005246669.1:n.23571+49A>C
XM_005246613.2:c.23571+49A>C (NEB)	XP_005246670.1:n.23571+49A>C
XM_005246615.2:c.23928+49A>C (NEB)	XP_005246672.1:n.23928+49A>C
XM_005246617.2:c.21384+49A>C (NEB)	XP_005246674.1:n.21384+49A>C
XM_006712541.2:c.23929-1209A>C (NEB)	XP_006712604.1:n.23929-1209A>C
XM_006712542.2:c.24021+49A>C (NEB)	XP_006712605.1:n.24021+49A>C
XM_011511225.2:c.23743-3324A>C (NEB)	XP_011509527.1:n.23743-3324A>C
XM_011511226.2:c.22113+49A>C (NEB)	XP_011509528.1:n.22113+49A>C
XM_011511227.2:c.19926+49A>C (NEB)	XP_011509529.1:n.19926+49A>C
XM_017004177.1:c.24189+49A>C (NEB)	XP_016859666.1:n.24189+49A>C
XM_017004178.1:c.24114+49A>C (NEB)	XP_016859667.1:n.24114+49A>C
XM_017004179.1:c.23836-544A>C (NEB)	XP_016859668.1:n.23836-544A>C
XM_017004180.1:c.23835+49A>C (NEB)	XP_016859669.1:n.23835+49A>C
XM_017004181.1:c.23836-1209A>C (NEB)	XP_016859670.1:n.23836-1209A>C
XM_017004182.1:c.23836-1209A>C (NEB)	XP_016859671.1:n.23836-1209A>C
XM_017004183.1:c.23836-3324A>C (NEB)	XP_016859672.1:n.23836-3324A>C
XM_017004184.1:c.23836-1209A>C (NEB)	XP_016859673.1:n.23836-1209A>C
XM_017004185.1:c.23743-5083A>C (NEB)	XP_016859674.1:n.23743-5083A>C
XR_001738811.2:n.8312-209T>G (RIF1)
XR_001738812.2:n.8312-1828T>G (RIF1)
XR_001738813.2:n.8214-209T>G (RIF1)
XR_001738814.2:n.8214-1828T>G (RIF1)
XR_001738815.2:n.8214-5457T>G (RIF1)
XR_001738816.2:n.8214-8633T>G (RIF1)
XR_001738817.2:n.8213+14242T>G (RIF1)
NM_001271208.2:c.24405+49A>C (NEB)	NP_001258137.2:n.24405+49A>C
NM_004543.5:c.18826-1209A>C (NEB)	NP_004534.3:n.18826-1209A>C
NM_001164507.2:c.24300+49A>C (NEB) MANE Plus Clinical	NP_001157979.2:n.24300+49A>C
NM_001164508.2:c.24300+49A>C (NEB) MANE Select	NP_001157980.2:n.24300+49A>C