Canonical Allele Identifier: CA2610496221

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 3006632
• ClinVar RCV Id: RCV003861247
• gnomAD v4: 10-99830295-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830295G>C , CM000672.2:g.99830295G>C	GRCh38
NC_000010.10:g.101590052G>C , CM000672.1:g.101590052G>C	GRCh37
NC_000010.9:g.101580042G>C	NCBI36
NG_011798.1:g.52590G>C
NG_011798.2:g.52698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2621-12G>C MANE Select	ENSP00000497274.1:n.2621-12G>C
ENST00000370449.8:c.2621-12G>C	ENSP00000359478.4:n.2621-12G>C
NM_000392.4:c.2621-12G>C	NP_000383.1:n.2621-12G>C
XM_006717630.2:c.1925-12G>C	XP_006717693.1:n.1925-12G>C
XM_006717631.2:c.*48-12G>C	XP_006717694.1:n.*48-12G>C
XM_011539291.1:c.2621-12G>C	XP_011537593.1:n.2621-12G>C
XR_945604.1:n.2810-12G>C
XR_945605.1:n.2812-12G>C
NM_000392.5:c.2621-12G>C MANE Select	NP_000383.2:n.2621-12G>C
XM_006717630.3:c.1925-12G>C	XP_006717693.1:n.1925-12G>C
XM_006717631.4:c.*48-12G>C	XP_006717694.1:n.*48-12G>C
XM_011539291.3:c.2621-12G>C	XP_011537593.1:n.2621-12G>C
XR_945604.3:n.2864-12G>C
XR_945605.3:n.2864-12G>C