Canonical Allele Identifier: CA5643853

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 298468
• ClinVar RCV Id: RCV000343982 ; RCV000731993
• dbSNP Id: rs146575217
• ExAC: 10:101596009 C / G
• gnomAD v2: 10-101596009-C-G
• gnomAD v3: 10-99836252-C-G
• gnomAD v4: 10-99836252-C-G
• MyVariant Identifiers: chr10:g.101596009C>G (hg19) ; chr10:g.99836252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836252C>G , CM000672.2:g.99836252C>G	GRCh38
NC_000010.10:g.101596009C>G , CM000672.1:g.101596009C>G	GRCh37
NC_000010.9:g.101585999C>G	NCBI36
NG_011798.1:g.58547C>G
NG_011798.2:g.58655C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.3576C>G MANE Select	ENSP00000497274.1:p.Thr1192=
ENST00000370449.8:c.3576C>G	ENSP00000359478.4:p.Thr1192=
NM_000392.4:c.3576C>G	NP_000383.1:p.Thr1192=
XM_006717630.2:c.2880C>G	XP_006717693.1:p.Thr960=
XR_945604.1:n.3765C>G
XR_945605.1:n.3767C>G
NM_000392.5:c.3576C>G MANE Select	NP_000383.2:p.Thr1192=
XM_006717630.3:c.2880C>G	XP_006717693.1:p.Thr960=
XR_945604.3:n.3819C>G
XR_945605.3:n.3819C>G