Canonical Allele Identifier: CA346670446

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102408G>T (hg19) ; chr2:g.43875269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875269G>T , CM000664.2:g.43875269G>T	GRCh38
NC_000002.11:g.44102408G>T , CM000664.1:g.44102408G>T	GRCh37
NC_000002.10:g.43955912G>T	NCBI36
NG_008884.1:g.41306G>T
NG_008884.2:g.48328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1612G>T MANE Select	ENSP00000272286.2:p.Val538Leu
ENST00000272286.2:c.1612G>T	ENSP00000272286.2:p.Val538Leu
NM_022437.2:c.1612G>T	NP_071882.1:p.Val538Leu
XM_005264483.2:c.1609G>T	XP_005264540.1:p.Val537Leu
XM_011533029.1:c.1624G>T	XP_011531331.1:p.Val542Leu
XM_011533030.1:c.1621G>T	XP_011531332.1:p.Val541Leu
XM_011533031.1:c.1396G>T	XP_011531333.1:p.Val466Leu
XR_939707.1:n.2114G>T
NM_001357321.1:c.1609G>T	NP_001344250.1:p.Val537Leu
XM_011533029.2:c.1624G>T	XP_011531331.1:p.Val542Leu
XM_011533030.2:c.1621G>T	XP_011531332.1:p.Val541Leu
XR_001738891.1:n.2128G>T
XR_939707.2:n.2128G>T
NM_022437.3:c.1612G>T MANE Select	NP_071882.1:p.Val538Leu
NM_001357321.2:c.1609G>T	NP_001344250.1:p.Val537Leu