Canonical Allele Identifier: CA425908341

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44105010G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877871G>C , CM000664.2:g.43877871G>C	GRCh38
NC_000002.11:g.44105010G>C , CM000664.1:g.44105010G>C	GRCh37
NC_000002.10:g.43958514G>C	NCBI36
NG_008884.1:g.43908G>C
NG_008884.2:g.50930G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1980G>C MANE Select	ENSP00000272286.2:p.Val660=
ENST00000272286.2:c.1980G>C	ENSP00000272286.2:p.Val660=
NM_022437.2:c.1980G>C	NP_071882.1:p.Val660=
XM_005264483.2:c.1977G>C	XP_005264540.1:p.Val659=
XM_011533029.1:c.1992G>C	XP_011531331.1:p.Val664=
XM_011533030.1:c.1989G>C	XP_011531332.1:p.Val663=
XM_011533031.1:c.1764G>C	XP_011531333.1:p.Val588=
XR_939707.1:n.2482G>C
NM_001357321.1:c.1977G>C	NP_001344250.1:p.Val659=
XM_011533029.2:c.1992G>C	XP_011531331.1:p.Val664=
XM_011533030.2:c.1989G>C	XP_011531332.1:p.Val663=
XR_001738891.1:n.2496G>C
XR_939707.2:n.2496G>C
NM_022437.3:c.1980G>C MANE Select	NP_071882.1:p.Val660=
NM_001357321.2:c.1977G>C	NP_001344250.1:p.Val659=