Canonical Allele Identifier: CA670622468

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 596716
• ClinVar RCV Id: RCV000732635
• dbSNP Id: rs1198723210
• gnomAD v4: 10-99817361-GGAC-G
• MyVariant Identifiers: chr10:g.101577119_101577121del (hg19) ; chr10:g.99817362_99817364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99817362_99817364del , CM000672.2:g.99817362_99817364del	GRCh38
NC_000010.10:g.101577119_101577121del , CM000672.1:g.101577119_101577121del	GRCh37
NC_000010.9:g.101567109_101567111del	NCBI36
NG_011798.1:g.39657_39659del
NG_011798.2:g.39765_39767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2149_2151del MANE Select	ENSP00000497274.1:p.Asp717del
ENST00000370449.8:c.2149_2151del	ENSP00000359478.4:p.Asp717del
NM_000392.4:c.2149_2151del	NP_000383.1:p.Asp717del
XM_006717630.2:c.1453_1455del	XP_006717693.1:p.Asp485del
XM_006717631.2:c.2149_2151del	XP_006717694.1:p.Asp717del
XM_011539291.1:c.2149_2151del	XP_011537593.1:p.Asp717del
XR_945604.1:n.2338_2340del
XR_945605.1:n.2340_2342del
NM_000392.5:c.2149_2151del MANE Select	NP_000383.2:p.Asp717del
XM_006717630.3:c.1453_1455del	XP_006717693.1:p.Asp485del
XM_006717631.4:c.2149_2151del	XP_006717694.1:p.Asp717del
XM_011539291.3:c.2149_2151del	XP_011537593.1:p.Asp717del
XM_017015675.2:c.2149_2151del	XP_016871164.1:p.Asp717del
XR_945604.3:n.2392_2394del
XR_945605.3:n.2392_2394del