Canonical Allele Identifier: CA346671278

Gene: ABCG8

Linked Data

• dbSNP Id: rs1314534979
• gnomAD v2: 2-44104951-T-G
• gnomAD v4: 2-43877812-T-G
• MyVariant Identifiers: chr2:g.44104951T>G (hg19) ; chr2:g.43877812T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877812T>G , CM000664.2:g.43877812T>G	GRCh38
NC_000002.11:g.44104951T>G , CM000664.1:g.44104951T>G	GRCh37
NC_000002.10:g.43958455T>G	NCBI36
NG_008884.1:g.43849T>G
NG_008884.2:g.50871T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1921T>G MANE Select	ENSP00000272286.2:p.Tyr641Asp
ENST00000272286.2:c.1921T>G	ENSP00000272286.2:p.Tyr641Asp
NM_022437.2:c.1921T>G	NP_071882.1:p.Tyr641Asp
XM_005264483.2:c.1918T>G	XP_005264540.1:p.Tyr640Asp
XM_011533029.1:c.1933T>G	XP_011531331.1:p.Tyr645Asp
XM_011533030.1:c.1930T>G	XP_011531332.1:p.Tyr644Asp
XM_011533031.1:c.1705T>G	XP_011531333.1:p.Tyr569Asp
XR_939707.1:n.2423T>G
NM_001357321.1:c.1918T>G	NP_001344250.1:p.Tyr640Asp
XM_011533029.2:c.1933T>G	XP_011531331.1:p.Tyr645Asp
XM_011533030.2:c.1930T>G	XP_011531332.1:p.Tyr644Asp
XR_001738891.1:n.2437T>G
XR_939707.2:n.2437T>G
NM_022437.3:c.1921T>G MANE Select	NP_071882.1:p.Tyr641Asp
NM_001357321.2:c.1918T>G	NP_001344250.1:p.Tyr640Asp