Canonical Allele Identifier: CA346670874

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104760T>A (hg19) ; chr2:g.43877621T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877621T>A , CM000664.2:g.43877621T>A	GRCh38
NC_000002.11:g.44104760T>A , CM000664.1:g.44104760T>A	GRCh37
NC_000002.10:g.43958264T>A	NCBI36
NG_008884.1:g.43658T>A
NG_008884.2:g.50680T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1817T>A MANE Select	ENSP00000272286.2:p.Ile606Asn
ENST00000272286.2:c.1817T>A	ENSP00000272286.2:p.Ile606Asn
NM_022437.2:c.1817T>A	NP_071882.1:p.Ile606Asn
XM_005264483.2:c.1814T>A	XP_005264540.1:p.Ile605Asn
XM_011533029.1:c.1829T>A	XP_011531331.1:p.Ile610Asn
XM_011533030.1:c.1826T>A	XP_011531332.1:p.Ile609Asn
XM_011533031.1:c.1601T>A	XP_011531333.1:p.Ile534Asn
XR_939707.1:n.2319T>A
NM_001357321.1:c.1814T>A	NP_001344250.1:p.Ile605Asn
XM_011533029.2:c.1829T>A	XP_011531331.1:p.Ile610Asn
XM_011533030.2:c.1826T>A	XP_011531332.1:p.Ile609Asn
XR_001738891.1:n.2333T>A
XR_939707.2:n.2333T>A
NM_022437.3:c.1817T>A MANE Select	NP_071882.1:p.Ile606Asn
NM_001357321.2:c.1814T>A	NP_001344250.1:p.Ile605Asn