Canonical Allele Identifier: CA346671336

Gene: ABCG8

Linked Data

• dbSNP Id: rs1302267845
• gnomAD v2: 2-44104966-A-G
• gnomAD v4: 2-43877827-A-G
• MyVariant Identifiers: chr2:g.44104966A>G (hg19) ; chr2:g.43877827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877827A>G , CM000664.2:g.43877827A>G	GRCh38
NC_000002.11:g.44104966A>G , CM000664.1:g.44104966A>G	GRCh37
NC_000002.10:g.43958470A>G	NCBI36
NG_008884.1:g.43864A>G
NG_008884.2:g.50886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1936A>G MANE Select	ENSP00000272286.2:p.Ile646Val
ENST00000272286.2:c.1936A>G	ENSP00000272286.2:p.Ile646Val
NM_022437.2:c.1936A>G	NP_071882.1:p.Ile646Val
XM_005264483.2:c.1933A>G	XP_005264540.1:p.Ile645Val
XM_011533029.1:c.1948A>G	XP_011531331.1:p.Ile650Val
XM_011533030.1:c.1945A>G	XP_011531332.1:p.Ile649Val
XM_011533031.1:c.1720A>G	XP_011531333.1:p.Ile574Val
XR_939707.1:n.2438A>G
NM_001357321.1:c.1933A>G	NP_001344250.1:p.Ile645Val
XM_011533029.2:c.1948A>G	XP_011531331.1:p.Ile650Val
XM_011533030.2:c.1945A>G	XP_011531332.1:p.Ile649Val
XR_001738891.1:n.2452A>G
XR_939707.2:n.2452A>G
NM_022437.3:c.1936A>G MANE Select	NP_071882.1:p.Ile646Val
NM_001357321.2:c.1933A>G	NP_001344250.1:p.Ile645Val