Canonical Allele Identifier: CA46474255

Gene: ABCG8

Linked Data

• dbSNP Id: rs889869736
• MyVariant Identifiers: chr2:g.44104777A>G (hg19) ; chr2:g.43877638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877638A>G , CM000664.2:g.43877638A>G	GRCh38
NC_000002.11:g.44104777A>G , CM000664.1:g.44104777A>G	GRCh37
NC_000002.10:g.43958281A>G	NCBI36
NG_008884.1:g.43675A>G
NG_008884.2:g.50697A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1834A>G MANE Select	ENSP00000272286.2:p.Thr612Ala
ENST00000272286.2:c.1834A>G	ENSP00000272286.2:p.Thr612Ala
NM_022437.2:c.1834A>G	NP_071882.1:p.Thr612Ala
XM_005264483.2:c.1831A>G	XP_005264540.1:p.Thr611Ala
XM_011533029.1:c.1846A>G	XP_011531331.1:p.Thr616Ala
XM_011533030.1:c.1843A>G	XP_011531332.1:p.Thr615Ala
XM_011533031.1:c.1618A>G	XP_011531333.1:p.Thr540Ala
XR_939707.1:n.2336A>G
NM_001357321.1:c.1831A>G	NP_001344250.1:p.Thr611Ala
XM_011533029.2:c.1846A>G	XP_011531331.1:p.Thr616Ala
XM_011533030.2:c.1843A>G	XP_011531332.1:p.Thr615Ala
XR_001738891.1:n.2350A>G
XR_939707.2:n.2350A>G
NM_022437.3:c.1834A>G MANE Select	NP_071882.1:p.Thr612Ala
NM_001357321.2:c.1831A>G	NP_001344250.1:p.Thr611Ala