Canonical Allele Identifier: CA346671386

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104978C>G (hg19) ; chr2:g.43877839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877839C>G , CM000664.2:g.43877839C>G	GRCh38
NC_000002.11:g.44104978C>G , CM000664.1:g.44104978C>G	GRCh37
NC_000002.10:g.43958482C>G	NCBI36
NG_008884.1:g.43876C>G
NG_008884.2:g.50898C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1948C>G MANE Select	ENSP00000272286.2:p.Leu650Val
ENST00000272286.2:c.1948C>G	ENSP00000272286.2:p.Leu650Val
NM_022437.2:c.1948C>G	NP_071882.1:p.Leu650Val
XM_005264483.2:c.1945C>G	XP_005264540.1:p.Leu649Val
XM_011533029.1:c.1960C>G	XP_011531331.1:p.Leu654Val
XM_011533030.1:c.1957C>G	XP_011531332.1:p.Leu653Val
XM_011533031.1:c.1732C>G	XP_011531333.1:p.Leu578Val
XR_939707.1:n.2450C>G
NM_001357321.1:c.1945C>G	NP_001344250.1:p.Leu649Val
XM_011533029.2:c.1960C>G	XP_011531331.1:p.Leu654Val
XM_011533030.2:c.1957C>G	XP_011531332.1:p.Leu653Val
XR_001738891.1:n.2464C>G
XR_939707.2:n.2464C>G
NM_022437.3:c.1948C>G MANE Select	NP_071882.1:p.Leu650Val
NM_001357321.2:c.1945C>G	NP_001344250.1:p.Leu649Val