Canonical Allele Identifier: CA425908287

Gene: ABCG8

Linked Data

• dbSNP Id: rs2104952544
• MyVariant Identifiers: chr2:g.44104926C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877787C>T , CM000664.2:g.43877787C>T	GRCh38
NC_000002.11:g.44104926C>T , CM000664.1:g.44104926C>T	GRCh37
NC_000002.10:g.43958430C>T	NCBI36
NG_008884.1:g.43824C>T
NG_008884.2:g.50846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1896C>T MANE Select	ENSP00000272286.2:p.Val632=
ENST00000272286.2:c.1896C>T	ENSP00000272286.2:p.Val632=
NM_022437.2:c.1896C>T	NP_071882.1:p.Val632=
XM_005264483.2:c.1893C>T	XP_005264540.1:p.Val631=
XM_011533029.1:c.1908C>T	XP_011531331.1:p.Val636=
XM_011533030.1:c.1905C>T	XP_011531332.1:p.Val635=
XM_011533031.1:c.1680C>T	XP_011531333.1:p.Val560=
XR_939707.1:n.2398C>T
NM_001357321.1:c.1893C>T	NP_001344250.1:p.Val631=
XM_011533029.2:c.1908C>T	XP_011531331.1:p.Val636=
XM_011533030.2:c.1905C>T	XP_011531332.1:p.Val635=
XR_001738891.1:n.2412C>T
XR_939707.2:n.2412C>T
NM_022437.3:c.1896C>T MANE Select	NP_071882.1:p.Val632=
NM_001357321.2:c.1893C>T	NP_001344250.1:p.Val631=