Canonical Allele Identifier: CA378117637

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 595251
• ClinVar RCV Id: RCV000730752
• dbSNP Id: rs536840524
• gnomAD v4: 10-99818821-G-C
• MyVariant Identifiers: chr10:g.101578578G>C (hg19) ; chr10:g.99818821G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99818821G>C , CM000672.2:g.99818821G>C	GRCh38
NC_000010.10:g.101578578G>C , CM000672.1:g.101578578G>C	GRCh37
NC_000010.9:g.101568568G>C	NCBI36
NG_011798.1:g.41116G>C
NG_011798.2:g.41224G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2303G>C MANE Select	ENSP00000497274.1:p.Arg768Pro
ENST00000370449.8:c.2303G>C	ENSP00000359478.4:p.Arg768Pro
NM_000392.4:c.2303G>C	NP_000383.1:p.Arg768Pro
XM_006717630.2:c.1607G>C	XP_006717693.1:p.Arg536Pro
XM_006717631.2:c.2303G>C	XP_006717694.1:p.Arg768Pro
XM_011539291.1:c.2303G>C	XP_011537593.1:p.Arg768Pro
XR_945604.1:n.2492G>C
XR_945605.1:n.2494G>C
NM_000392.5:c.2303G>C MANE Select	NP_000383.2:p.Arg768Pro
XM_006717630.3:c.1607G>C	XP_006717693.1:p.Arg536Pro
XM_006717631.4:c.2303G>C	XP_006717694.1:p.Arg768Pro
XM_011539291.3:c.2303G>C	XP_011537593.1:p.Arg768Pro
XM_017015675.2:c.2303G>C	XP_016871164.1:p.Arg768Pro
XR_945604.3:n.2546G>C
XR_945605.3:n.2546G>C