Canonical Allele Identifier: CA5643767

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 426249
• ClinVar RCV Id: RCV000489957 ; RCV003129872
• dbSNP Id: rs775771081
• ExAC: 10:101594212 AC / A
• gnomAD v2: 10-101594212-AC-A
• gnomAD v3: 10-99834455-AC-A
• gnomAD v4: 10-99834455-AC-A
• MyVariant Identifiers: chr10:g.101594215del (hg19) ; chr10:g.101594213del (hg19) ; chr10:g.99834458del (hg38) ; chr10:g.99834456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99834458del , CM000672.2:g.99834458del	GRCh38
NC_000010.10:g.101594215del , CM000672.1:g.101594215del	GRCh37
NC_000010.9:g.101584205del	NCBI36
NG_011798.1:g.56753del
NG_011798.2:g.56861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3337del MANE Select	ENSP00000497274.1:p.Val1114SerfsTer2
ENST00000370449.8:c.3337del	ENSP00000359478.4:p.Val1114SerfsTer2
NM_000392.4:c.3337del	NP_000383.1:p.Val1114SerfsTer2
XM_006717630.2:c.2641del	XP_006717693.1:p.Val882SerfsTer2
XR_945604.1:n.3526del
XR_945605.1:n.3528del
NM_000392.5:c.3337del MANE Select	NP_000383.2:p.Val1114SerfsTer2
XM_006717630.3:c.2641del	XP_006717693.1:p.Val882SerfsTer2
XR_945604.3:n.3580del
XR_945605.3:n.3580del