Canonical Allele Identifier: CA5643446

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 593506
• ClinVar RCV Id: RCV000728567 ; RCV002536413
• dbSNP Id: rs536840524
• ExAC: 10:101578578 G / A
• gnomAD v2: 10-101578578-G-A
• gnomAD v3: 10-99818821-G-A
• gnomAD v4: 10-99818821-G-A
• MyVariant Identifiers: chr10:g.101578578G>A (hg19) ; chr10:g.99818821G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2303G>A MANE Select	ENSP00000497274.1:p.Arg768Gln
ENST00000370449.8:c.2303G>A	ENSP00000359478.4:p.Arg768Gln
NM_000392.4:c.2303G>A	NP_000383.1:p.Arg768Gln
XM_006717630.2:c.1607G>A	XP_006717693.1:p.Arg536Gln
XM_006717631.2:c.2303G>A	XP_006717694.1:p.Arg768Gln
XM_011539291.1:c.2303G>A	XP_011537593.1:p.Arg768Gln
XR_945604.1:n.2492G>A
XR_945605.1:n.2494G>A
NM_000392.5:c.2303G>A MANE Select	NP_000383.2:p.Arg768Gln
XM_006717630.3:c.1607G>A	XP_006717693.1:p.Arg536Gln
XM_006717631.4:c.2303G>A	XP_006717694.1:p.Arg768Gln
XM_011539291.3:c.2303G>A	XP_011537593.1:p.Arg768Gln
XM_017015675.2:c.2303G>A	XP_016871164.1:p.Arg768Gln
XR_945604.3:n.2546G>A
XR_945605.3:n.2546G>A