Canonical Allele Identifier: CA1637597

Gene: ABCG8

Linked Data

• dbSNP Id: rs761592867
• ExAC: 2:44102500 CT / C
• gnomAD v2: 2-44102500-CT-C
• MyVariant Identifiers: chr2:g.44102501del (hg19) ; chr2:g.43875362del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875362del , CM000664.2:g.43875362del	GRCh38
NC_000002.11:g.44102501del , CM000664.1:g.44102501del	GRCh37
NC_000002.10:g.43956005del	NCBI36
NG_008884.1:g.41399del
NG_008884.2:g.48421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1705del MANE Select	ENSP00000272286.2:p.Ser569ProfsTer9
ENST00000272286.2:c.1705del	ENSP00000272286.2:p.Ser569ProfsTer9
NM_022437.2:c.1705del	NP_071882.1:p.Ser569ProfsTer9
XM_005264483.2:c.1702del	XP_005264540.1:p.Ser568ProfsTer9
XM_011533029.1:c.1717del	XP_011531331.1:p.Ser573ProfsTer9
XM_011533030.1:c.1714del	XP_011531332.1:p.Ser572ProfsTer9
XM_011533031.1:c.1489del	XP_011531333.1:p.Ser497ProfsTer9
XR_939707.1:n.2207del
NM_001357321.1:c.1702del	NP_001344250.1:p.Ser568ProfsTer9
XM_011533029.2:c.1717del	XP_011531331.1:p.Ser573ProfsTer9
XM_011533030.2:c.1714del	XP_011531332.1:p.Ser572ProfsTer9
XR_001738891.1:n.2221del
XR_939707.2:n.2221del
NM_022437.3:c.1705del MANE Select	NP_071882.1:p.Ser569ProfsTer9
NM_001357321.2:c.1702del	NP_001344250.1:p.Ser568ProfsTer9