Canonical Allele Identifier: CA346670769

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104712T>A (hg19) ; chr2:g.43877573T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877573T>A , CM000664.2:g.43877573T>A	GRCh38
NC_000002.11:g.44104712T>A , CM000664.1:g.44104712T>A	GRCh37
NC_000002.10:g.43958216T>A	NCBI36
NG_008884.1:g.43610T>A
NG_008884.2:g.50632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1769T>A MANE Select	ENSP00000272286.2:p.Ile590Asn
ENST00000272286.2:c.1769T>A	ENSP00000272286.2:p.Ile590Asn
NM_022437.2:c.1769T>A	NP_071882.1:p.Ile590Asn
XM_005264483.2:c.1766T>A	XP_005264540.1:p.Ile589Asn
XM_011533029.1:c.1781T>A	XP_011531331.1:p.Ile594Asn
XM_011533030.1:c.1778T>A	XP_011531332.1:p.Ile593Asn
XM_011533031.1:c.1553T>A	XP_011531333.1:p.Ile518Asn
XR_939707.1:n.2271T>A
NM_001357321.1:c.1766T>A	NP_001344250.1:p.Ile589Asn
XM_011533029.2:c.1781T>A	XP_011531331.1:p.Ile594Asn
XM_011533030.2:c.1778T>A	XP_011531332.1:p.Ile593Asn
XR_001738891.1:n.2285T>A
XR_939707.2:n.2285T>A
NM_022437.3:c.1769T>A MANE Select	NP_071882.1:p.Ile590Asn
NM_001357321.2:c.1766T>A	NP_001344250.1:p.Ile589Asn