Canonical Allele Identifier: CA46474575

Gene: ABCG8

Linked Data

• dbSNP Id: rs201206683
• gnomAD v4: 2-43877748-T-C
• MyVariant Identifiers: chr2:g.44104887T>C (hg19) ; chr2:g.43877748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877748T>C , CM000664.2:g.43877748T>C	GRCh38
NC_000002.11:g.44104887T>C , CM000664.1:g.44104887T>C	GRCh37
NC_000002.10:g.43958391T>C	NCBI36
NG_008884.1:g.43785T>C
NG_008884.2:g.50807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1885-28T>C MANE Select	ENSP00000272286.2:n.1885-28T>C
ENST00000272286.2:c.1885-28T>C	ENSP00000272286.2:n.1885-28T>C
NM_022437.2:c.1885-28T>C	NP_071882.1:n.1885-28T>C
XM_005264483.2:c.1882-28T>C	XP_005264540.1:n.1882-28T>C
XM_011533029.1:c.1897-28T>C	XP_011531331.1:n.1897-28T>C
XM_011533030.1:c.1894-28T>C	XP_011531332.1:n.1894-28T>C
XM_011533031.1:c.1669-28T>C	XP_011531333.1:n.1669-28T>C
XR_939707.1:n.2387-28T>C
NM_001357321.1:c.1882-28T>C	NP_001344250.1:n.1882-28T>C
XM_011533029.2:c.1897-28T>C	XP_011531331.1:n.1897-28T>C
XM_011533030.2:c.1894-28T>C	XP_011531332.1:n.1894-28T>C
XR_001738891.1:n.2401-28T>C
XR_939707.2:n.2401-28T>C
NM_022437.3:c.1885-28T>C MANE Select	NP_071882.1:n.1885-28T>C
NM_001357321.2:c.1882-28T>C	NP_001344250.1:n.1882-28T>C