Canonical Allele Identifier: CA10612974

Gene: METTL8 DCAF17

Linked Data

• ClinVar Variation Id: 332255
• ClinVar RCV Id: RCV000384260
• dbSNP Id: rs886055103
• gnomAD v3: 2-171434372-C-G
• gnomAD v4: 2-171434372-C-G
• MyVariant Identifiers: chr2:g.172290882C>G (hg19) ; chr2:g.171434372C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171434372C>G , CM000664.2:g.171434372C>G	GRCh38
NC_000002.11:g.172290882C>G , CM000664.1:g.172290882C>G	GRCh37
NC_000002.10:g.171999128C>G	NCBI36
NG_013038.1:g.5122C>G
NG_013038.2:g.5122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612742.5:c.-13+302G>C (METTL8)	ENSP00000480056.1:n.-13+302G>C
ENST00000375255.8:c.-206C>G (DCAF17) MANE Select	ENSP00000364404.3:n.-206C>G
ENST00000375255.7:c.-206C>G (DCAF17)	ENSP00000364404.3:n.-206C>G
ENST00000442778.5:c.-13+302G>C (METTL8)	ENSP00000404646.1:n.-13+302G>C
ENST00000453846.5:c.-137+302G>C (METTL8)	ENSP00000411589.1:n.-137+302G>C
ENST00000460188.5:n.115+302G>C (METTL8)
ENST00000462821.1:n.129+302G>C (METTL8)
ENST00000468592.5:n.54+102C>G (DCAF17)
ENST00000539783.5:c.-206C>G (DCAF17)	ENSP00000442238.1:n.-206C>G
ENST00000612742.4:c.-13+302G>C (METTL8)	ENSP00000480056.1:n.-13+302G>C
NM_001164821.1:c.-206C>G (DCAF17)	NP_001158293.1:n.-206C>G
NM_024770.3:c.-13+302G>C (METTL8)	NP_079046.2:n.-13+302G>C
NM_025000.3:c.-206C>G (DCAF17)	NP_079276.2:n.-206C>G
NR_028482.1:n.122C>G (DCAF17)
XM_006712762.2:c.8+302G>C (METTL8)	XP_006712825.1:n.8+302G>C
XM_006712764.2:c.8+302G>C (METTL8)	XP_006712827.1:n.8+302G>C
XM_006712766.2:c.-206C>G (DCAF17)	XP_006712829.1:n.-206C>G
XM_006712767.1:c.-136+102C>G (DCAF17)	XP_006712830.1:n.-136+102C>G
XM_006712772.2:c.-206C>G (DCAF17)	XP_006712835.1:n.-206C>G
XM_011511875.1:c.8+302G>C (METTL8)	XP_011510177.1:n.8+302G>C
XM_011511881.1:c.-206C>G (DCAF17)	XP_011510183.1:n.-206C>G
XM_011511882.1:c.-206C>G (DCAF17)	XP_011510184.1:n.-206C>G
XM_011511883.1:c.-206C>G (DCAF17)	XP_011510185.1:n.-206C>G
XM_011511884.1:c.-206C>G (DCAF17)	XP_011510186.1:n.-206C>G
XM_011511885.1:c.-206C>G (DCAF17)	XP_011510187.1:n.-206C>G
XR_427113.2:n.117C>G (DCAF17)
XR_923027.1:n.30+302G>C (METTL8)
XR_923028.1:n.30+302G>C (METTL8)
XR_923029.1:n.117C>G (DCAF17)
XR_923030.1:n.117C>G (DCAF17)
NM_001321157.1:c.8+302G>C (METTL8)	NP_001308086.1:n.8+302G>C
NM_001321158.1:c.8+302G>C (METTL8)	NP_001308087.1:n.8+302G>C
NM_001321161.1:c.8+302G>C (METTL8)	NP_001308090.1:n.8+302G>C
NM_024770.4:c.-13+302G>C (METTL8)	NP_079046.2:n.-13+302G>C
NR_135568.1:n.130+302G>C (METTL8)
XM_011511875.3:c.8+302G>C (METTL8)	XP_011510177.1:n.8+302G>C
XM_017004984.2:c.8+302G>C (METTL8)	XP_016860473.1:n.8+302G>C
XM_017004986.2:c.-13+302G>C (METTL8)	XP_016860475.1:n.-13+302G>C
XM_017004987.2:c.8+302G>C (METTL8)	XP_016860476.1:n.8+302G>C
XM_017004995.1:c.-206C>G (DCAF17)	XP_016860484.1:n.-206C>G
XM_017004996.1:c.-206C>G (DCAF17)	XP_016860485.1:n.-206C>G
XM_017004997.1:c.-206C>G (DCAF17)	XP_016860486.1:n.-206C>G
XM_017004998.1:c.-905+102C>G (DCAF17)	XP_016860487.1:n.-905+102C>G
XM_017004999.1:c.-206C>G (DCAF17)	XP_016860488.1:n.-206C>G
XM_017005000.1:c.-206C>G (DCAF17)	XP_016860489.1:n.-206C>G
XM_017005001.2:c.-206C>G (DCAF17)	XP_016860490.1:n.-206C>G
XM_017005002.1:c.-671+102C>G (DCAF17)	XP_016860491.1:n.-671+102C>G
XR_001738955.1:n.107+302G>C (METTL8)
XR_001738961.1:n.117C>G (DCAF17)
XR_002959340.1:n.108+302G>C (METTL8)
XR_002959341.1:n.108+302G>C (METTL8)
XR_923027.3:n.107+302G>C (METTL8)
XR_923028.3:n.107+302G>C (METTL8)
NM_025000.4:c.-206C>G (DCAF17) MANE Select	NP_079276.2:n.-206C>G
NM_001321157.2:c.8+302G>C (METTL8)	NP_001308086.1:n.8+302G>C
NM_001321158.2:c.8+302G>C (METTL8)	NP_001308087.1:n.8+302G>C
NM_001321161.2:c.8+302G>C (METTL8)	NP_001308090.1:n.8+302G>C
NR_028482.2:n.147C>G (DCAF17)
NR_135568.2:n.99+302G>C (METTL8)
NM_001164821.2:c.-206C>G (DCAF17)	NP_001158293.1:n.-206C>G
NM_024770.5:c.-13+302G>C (METTL8)	NP_079046.2:n.-13+302G>C