Canonical Allele Identifier: CA346670785

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104719A>T (hg19) ; chr2:g.43877580A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877580A>T , CM000664.2:g.43877580A>T	GRCh38
NC_000002.11:g.44104719A>T , CM000664.1:g.44104719A>T	GRCh37
NC_000002.10:g.43958223A>T	NCBI36
NG_008884.1:g.43617A>T
NG_008884.2:g.50639A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1776A>T MANE Select	ENSP00000272286.2:p.Lys592Asn
ENST00000272286.2:c.1776A>T	ENSP00000272286.2:p.Lys592Asn
NM_022437.2:c.1776A>T	NP_071882.1:p.Lys592Asn
XM_005264483.2:c.1773A>T	XP_005264540.1:p.Lys591Asn
XM_011533029.1:c.1788A>T	XP_011531331.1:p.Lys596Asn
XM_011533030.1:c.1785A>T	XP_011531332.1:p.Lys595Asn
XM_011533031.1:c.1560A>T	XP_011531333.1:p.Lys520Asn
XR_939707.1:n.2278A>T
NM_001357321.1:c.1773A>T	NP_001344250.1:p.Lys591Asn
XM_011533029.2:c.1788A>T	XP_011531331.1:p.Lys596Asn
XM_011533030.2:c.1785A>T	XP_011531332.1:p.Lys595Asn
XR_001738891.1:n.2292A>T
XR_939707.2:n.2292A>T
NM_022437.3:c.1776A>T MANE Select	NP_071882.1:p.Lys592Asn
NM_001357321.2:c.1773A>T	NP_001344250.1:p.Lys591Asn