Canonical Allele Identifier: CA346670921

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877642-A-G
• MyVariant Identifiers: chr2:g.44104781A>G (hg19) ; chr2:g.43877642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877642A>G , CM000664.2:g.43877642A>G	GRCh38
NC_000002.11:g.44104781A>G , CM000664.1:g.44104781A>G	GRCh37
NC_000002.10:g.43958285A>G	NCBI36
NG_008884.1:g.43679A>G
NG_008884.2:g.50701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1838A>G MANE Select	ENSP00000272286.2:p.Tyr613Cys
ENST00000272286.2:c.1838A>G	ENSP00000272286.2:p.Tyr613Cys
NM_022437.2:c.1838A>G	NP_071882.1:p.Tyr613Cys
XM_005264483.2:c.1835A>G	XP_005264540.1:p.Tyr612Cys
XM_011533029.1:c.1850A>G	XP_011531331.1:p.Tyr617Cys
XM_011533030.1:c.1847A>G	XP_011531332.1:p.Tyr616Cys
XM_011533031.1:c.1622A>G	XP_011531333.1:p.Tyr541Cys
XR_939707.1:n.2340A>G
NM_001357321.1:c.1835A>G	NP_001344250.1:p.Tyr612Cys
XM_011533029.2:c.1850A>G	XP_011531331.1:p.Tyr617Cys
XM_011533030.2:c.1847A>G	XP_011531332.1:p.Tyr616Cys
XR_001738891.1:n.2354A>G
XR_939707.2:n.2354A>G
NM_022437.3:c.1838A>G MANE Select	NP_071882.1:p.Tyr613Cys
NM_001357321.2:c.1835A>G	NP_001344250.1:p.Tyr612Cys