Canonical Allele Identifier: CA212857524

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 1234953
• ClinVar RCV Id: RCV001621717
• dbSNP Id: rs4148395
• gnomAD v2: 10-101589925-G-A
• gnomAD v3: 10-99830168-G-A
• gnomAD v4: 10-99830168-G-A
• MyVariant Identifiers: chr10:g.101589925G>A (hg19) ; chr10:g.99830168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830168G>A , CM000672.2:g.99830168G>A	GRCh38
NC_000010.10:g.101589925G>A , CM000672.1:g.101589925G>A	GRCh37
NC_000010.9:g.101579915G>A	NCBI36
NG_011798.1:g.52463G>A
NG_011798.2:g.52571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2621-139G>A MANE Select	ENSP00000497274.1:n.2621-139G>A
ENST00000370449.8:c.2621-139G>A	ENSP00000359478.4:n.2621-139G>A
NM_000392.4:c.2621-139G>A	NP_000383.1:n.2621-139G>A
XM_006717630.2:c.1925-139G>A	XP_006717693.1:n.1925-139G>A
XM_006717631.2:c.*48-139G>A	XP_006717694.1:n.*48-139G>A
XM_011539291.1:c.2621-139G>A	XP_011537593.1:n.2621-139G>A
XR_945604.1:n.2810-139G>A
XR_945605.1:n.2812-139G>A
NM_000392.5:c.2621-139G>A MANE Select	NP_000383.2:n.2621-139G>A
XM_006717630.3:c.1925-139G>A	XP_006717693.1:n.1925-139G>A
XM_006717631.4:c.*48-139G>A	XP_006717694.1:n.*48-139G>A
XM_011539291.3:c.2621-139G>A	XP_011537593.1:n.2621-139G>A
XR_945604.3:n.2864-139G>A
XR_945605.3:n.2864-139G>A