Canonical Allele Identifier: CA378127665

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 3010578
• ClinVar RCV Id: RCV003862217
• MyVariant Identifiers: chr10:g.101604223G>C (hg19) ; chr10:g.99844466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844466G>C , CM000672.2:g.99844466G>C	GRCh38
NC_000010.10:g.101604223G>C , CM000672.1:g.101604223G>C	GRCh37
NC_000010.9:g.101594213G>C	NCBI36
NG_011798.1:g.66761G>C
NG_011798.2:g.66869G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3987+1G>C MANE Select	ENSP00000497274.1:n.3987+1G>C
ENST00000649459.1:n.335+1G>C
ENST00000370449.8:c.3987+1G>C	ENSP00000359478.4:n.3987+1G>C
NM_000392.4:c.3987+1G>C	NP_000383.1:n.3987+1G>C
XM_006717630.2:c.3291+1G>C	XP_006717693.1:n.3291+1G>C
XR_945604.1:n.4176+1G>C
XR_945605.1:n.4051+1G>C
NM_000392.5:c.3987+1G>C MANE Select	NP_000383.2:n.3987+1G>C
XM_006717630.3:c.3291+1G>C	XP_006717693.1:n.3291+1G>C
XR_945604.3:n.4230+1G>C
XR_945605.3:n.4103+1G>C