Canonical Allele Identifier: CA66994374

Gene: GIGYF2

Linked Data

• dbSNP Id: rs201862113
• MyVariant Identifiers: chr2:g.233655548T>G (hg19) ; chr2:g.232790838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790838T>G , CM000664.2:g.232790838T>G	GRCh38
NC_000002.11:g.233655548T>G , CM000664.1:g.233655548T>G	GRCh37
NC_000002.10:g.233363792T>G	NCBI36
NG_011847.1:g.98534T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.853T>G MANE Select	ENSP00000362664.5:p.Leu285Val
ENST00000676848.1:c.199T>G	ENSP00000503313.1:p.Leu67Val
ENST00000677450.1:c.334T>G	ENSP00000503420.1:p.Leu112Val
ENST00000677591.1:c.109T>G	ENSP00000503061.1:p.Leu37Val
ENST00000678230.1:c.346T>G	ENSP00000504272.1:p.Leu116Val
ENST00000678339.1:c.109T>G	ENSP00000503437.1:p.Leu37Val
ENST00000678466.1:c.109T>G	ENSP00000504219.1:p.Leu37Val
ENST00000678885.1:c.109T>G	ENSP00000503563.1:p.Leu37Val
ENST00000373563.8:c.853T>G	ENSP00000362664.4:p.Leu285Val
ENST00000409196.7:c.835T>G	ENSP00000387070.3:p.Leu279Val
ENST00000409451.7:c.919T>G	ENSP00000387170.3:p.Leu307Val
ENST00000409480.5:c.919T>G	ENSP00000386765.1:p.Leu307Val
ENST00000409547.5:c.853T>G	ENSP00000386537.1:p.Leu285Val
ENST00000410033.1:c.199T>G	ENSP00000387276.1:p.Leu67Val
ENST00000423659.5:c.682T>G	ENSP00000404195.1:p.Leu228Val
ENST00000424414.6:c.109T>G	ENSP00000401261.2:p.Leu37Val
ENST00000427649.5:c.109T>G	ENSP00000398055.1:p.Leu37Val
ENST00000436349.5:c.109T>G	ENSP00000400076.1:p.Leu37Val
ENST00000440945.5:c.835T>G	ENSP00000410297.1:p.Leu279Val
ENST00000445650.5:c.346T>G	ENSP00000392218.1:p.Leu116Val
ENST00000455139.5:c.109T>G	ENSP00000395299.1:p.Leu37Val
ENST00000458528.1:c.107+92T>G	ENSP00000389322.1:n.107+92T>G
ENST00000629305.2:c.919T>G	ENSP00000487548.1:p.Leu307Val
NM_001103146.1:c.853T>G	NP_001096616.1:p.Leu285Val
NM_001103147.1:c.919T>G	NP_001096617.1:p.Leu307Val
NM_001103148.1:c.835T>G	NP_001096618.1:p.Leu279Val
NM_015575.3:c.853T>G	NP_056390.2:p.Leu285Val
NR_103492.1:n.966T>G
NM_001103146.3:c.853T>G MANE Select	NP_001096616.1:p.Leu285Val
NM_001103147.2:c.919T>G	NP_001096617.1:p.Leu307Val
NM_001103148.2:c.835T>G	NP_001096618.1:p.Leu279Val
NM_015575.4:c.853T>G	NP_056390.2:p.Leu285Val