Canonical Allele Identifier: CA346671632

Gene: ABCG8

Linked Data

• dbSNP Id: rs762565039
• gnomAD v3: 2-43877910-G-A
• gnomAD v4: 2-43877910-G-A
• MyVariant Identifiers: chr2:g.44105049G>A (hg19) ; chr2:g.43877910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877910G>A , CM000664.2:g.43877910G>A	GRCh38
NC_000002.11:g.44105049G>A , CM000664.1:g.44105049G>A	GRCh37
NC_000002.10:g.43958553G>A	NCBI36
NG_008884.1:g.43947G>A
NG_008884.2:g.50969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.2019G>A MANE Select	ENSP00000272286.2:p.Trp673Ter
ENST00000272286.2:c.2019G>A	ENSP00000272286.2:p.Trp673Ter
NM_022437.2:c.2019G>A	NP_071882.1:p.Trp673Ter
XM_005264483.2:c.2016G>A	XP_005264540.1:p.Trp672Ter
XM_011533029.1:c.2031G>A	XP_011531331.1:p.Trp677Ter
XM_011533030.1:c.2028G>A	XP_011531332.1:p.Trp676Ter
XM_011533031.1:c.1803G>A	XP_011531333.1:p.Trp601Ter
XR_939707.1:n.2521G>A
NM_001357321.1:c.2016G>A	NP_001344250.1:p.Trp672Ter
XM_011533029.2:c.2031G>A	XP_011531331.1:p.Trp677Ter
XM_011533030.2:c.2028G>A	XP_011531332.1:p.Trp676Ter
XR_001738891.1:n.2535G>A
XR_939707.2:n.2535G>A
NM_022437.3:c.2019G>A MANE Select	NP_071882.1:p.Trp673Ter
NM_001357321.2:c.2016G>A	NP_001344250.1:p.Trp672Ter