Canonical Allele Identifier: CA5644012

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 799769
• ClinVar RCV Id: RCV000983388 ; RCV003897999
• dbSNP Id: rs376356933
• ExAC: 10:101605376 C / T
• gnomAD v2: 10-101605376-C-T
• gnomAD v3: 10-99845619-C-T
• gnomAD v4: 10-99845619-C-T
• MyVariant Identifiers: chr10:g.101605376C>T (hg19) ; chr10:g.99845619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845619C>T , CM000672.2:g.99845619C>T	GRCh38
NC_000010.10:g.101605376C>T , CM000672.1:g.101605376C>T	GRCh37
NC_000010.9:g.101595366C>T	NCBI36
NG_011798.1:g.67914C>T
NG_011798.2:g.68022C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.3988-5C>T MANE Select	ENSP00000497274.1:n.3988-5C>T
ENST00000649459.1:n.336-5C>T
ENST00000370449.8:c.3988-5C>T	ENSP00000359478.4:n.3988-5C>T
NM_000392.4:c.3988-5C>T	NP_000383.1:n.3988-5C>T
XM_006717630.2:c.3292-5C>T	XP_006717693.1:n.3292-5C>T
XR_945604.1:n.4177-64C>T
XR_945605.1:n.4052-5C>T
NM_000392.5:c.3988-5C>T MANE Select	NP_000383.2:n.3988-5C>T
XM_006717630.3:c.3292-5C>T	XP_006717693.1:n.3292-5C>T
XR_945604.3:n.4231-64C>T
XR_945605.3:n.4104-5C>T