Canonical Allele Identifier: CA670640851

Gene: ABCC2

Linked Data

• dbSNP Id: rs1316830840
• gnomAD v3: 10-99844589-C-A
• gnomAD v4: 10-99844589-C-A
• MyVariant Identifiers: chr10:g.101604346C>A (hg19) ; chr10:g.99844589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844589C>A , CM000672.2:g.99844589C>A	GRCh38
NC_000010.10:g.101604346C>A , CM000672.1:g.101604346C>A	GRCh37
NC_000010.9:g.101594336C>A	NCBI36
NG_011798.1:g.66884C>A
NG_011798.2:g.66992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3987+124C>A MANE Select	ENSP00000497274.1:n.3987+124C>A
ENST00000649459.1:n.335+124C>A
ENST00000370449.8:c.3987+124C>A	ENSP00000359478.4:n.3987+124C>A
NM_000392.4:c.3987+124C>A	NP_000383.1:n.3987+124C>A
XM_006717630.2:c.3291+124C>A	XP_006717693.1:n.3291+124C>A
XR_945604.1:n.4176+124C>A
XR_945605.1:n.4051+124C>A
NM_000392.5:c.3987+124C>A MANE Select	NP_000383.2:n.3987+124C>A
XM_006717630.3:c.3291+124C>A	XP_006717693.1:n.3291+124C>A
XR_945604.3:n.4230+124C>A
XR_945605.3:n.4103+124C>A