Canonical Allele Identifier: CA346670969

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104804A>G (hg19) ; chr2:g.43877665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877665A>G , CM000664.2:g.43877665A>G	GRCh38
NC_000002.11:g.44104804A>G , CM000664.1:g.44104804A>G	GRCh37
NC_000002.10:g.43958308A>G	NCBI36
NG_008884.1:g.43702A>G
NG_008884.2:g.50724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1861A>G MANE Select	ENSP00000272286.2:p.Thr621Ala
ENST00000272286.2:c.1861A>G	ENSP00000272286.2:p.Thr621Ala
NM_022437.2:c.1861A>G	NP_071882.1:p.Thr621Ala
XM_005264483.2:c.1858A>G	XP_005264540.1:p.Thr620Ala
XM_011533029.1:c.1873A>G	XP_011531331.1:p.Thr625Ala
XM_011533030.1:c.1870A>G	XP_011531332.1:p.Thr624Ala
XM_011533031.1:c.1645A>G	XP_011531333.1:p.Thr549Ala
XR_939707.1:n.2363A>G
NM_001357321.1:c.1858A>G	NP_001344250.1:p.Thr620Ala
XM_011533029.2:c.1873A>G	XP_011531331.1:p.Thr625Ala
XM_011533030.2:c.1870A>G	XP_011531332.1:p.Thr624Ala
XR_001738891.1:n.2377A>G
XR_939707.2:n.2377A>G
NM_022437.3:c.1861A>G MANE Select	NP_071882.1:p.Thr621Ala
NM_001357321.2:c.1858A>G	NP_001344250.1:p.Thr620Ala