Canonical Allele Identifier: CA10637194

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 298482
• ClinVar RCV Id: RCV000386440
• dbSNP Id: rs777704351
• gnomAD v2: 10-101611502-AG-A
• gnomAD v3: 10-99851745-AG-A
• gnomAD v4: 10-99851745-AG-A
• MyVariant Identifiers: chr10:g.101611504del (hg19) ; chr10:g.101611503del (hg19) ; chr10:g.99851747del (hg38) ; chr10:g.99851746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99851747del , CM000672.2:g.99851747del	GRCh38
NC_000010.10:g.101611504del , CM000672.1:g.101611504del	GRCh37
NC_000010.9:g.101601494del	NCBI36
NG_011798.1:g.74042del
NG_011798.2:g.74150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.*116del MANE Select	ENSP00000497274.1:n.*116del
ENST00000648523.1:c.824del
ENST00000370449.8:c.*116del	ENSP00000359478.4:n.*116del
NM_000392.4:c.*116del	NP_000383.1:n.*116del
XM_006717630.2:c.*116del	XP_006717693.1:n.*116del
NM_000392.5:c.*116del MANE Select	NP_000383.2:n.*116del
XM_006717630.3:c.*116del	XP_006717693.1:n.*116del