Canonical Allele Identifier: CA1637693

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2742618
• ClinVar RCV Id: RCV003558021
• dbSNP Id: rs753260713
• ExAC: 2:44104833 CG / C
• gnomAD v2: 2-44104833-CG-C
• gnomAD v3: 2-43877694-CG-C
• gnomAD v4: 2-43877694-CG-C
• MyVariant Identifiers: chr2:g.44104834del (hg19) ; chr2:g.43877695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877698del , CM000664.2:g.43877698del	GRCh38
NC_000002.11:g.44104837del , CM000664.1:g.44104837del	GRCh37
NC_000002.10:g.43958341del	NCBI36
NG_008884.1:g.43735del
NG_008884.2:g.50757del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1884+10del MANE Select	ENSP00000272286.2:n.1884+10del
ENST00000272286.2:c.1884+10del	ENSP00000272286.2:n.1884+10del
NM_022437.2:c.1884+10del	NP_071882.1:n.1884+10del
XM_005264483.2:c.1881+10del	XP_005264540.1:n.1881+10del
XM_011533029.1:c.1896+10del	XP_011531331.1:n.1896+10del
XM_011533030.1:c.1893+10del	XP_011531332.1:n.1893+10del
XM_011533031.1:c.1668+10del	XP_011531333.1:n.1668+10del
XR_939707.1:n.2386+10del
NM_001357321.1:c.1881+10del	NP_001344250.1:n.1881+10del
XM_011533029.2:c.1896+10del	XP_011531331.1:n.1896+10del
XM_011533030.2:c.1893+10del	XP_011531332.1:n.1893+10del
XR_001738891.1:n.2400+10del
XR_939707.2:n.2400+10del
NM_022437.3:c.1884+10del MANE Select	NP_071882.1:n.1884+10del
NM_001357321.2:c.1881+10del	NP_001344250.1:n.1881+10del