Canonical Allele Identifier: CA212857753

Gene: ABCC2

Linked Data

• dbSNP Id: rs929261014
• gnomAD v3: 10-99830433-G-A
• gnomAD v4: 10-99830433-G-A
• MyVariant Identifiers: chr10:g.101590190G>A (hg19) ; chr10:g.99830433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830433G>A , CM000672.2:g.99830433G>A	GRCh38
NC_000010.10:g.101590190G>A , CM000672.1:g.101590190G>A	GRCh37
NC_000010.9:g.101580180G>A	NCBI36
NG_011798.1:g.52728G>A
NG_011798.2:g.52836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2747G>A MANE Select	ENSP00000497274.1:p.Ser916Asn
ENST00000370449.8:c.2747G>A	ENSP00000359478.4:p.Ser916Asn
NM_000392.4:c.2747G>A	NP_000383.1:p.Ser916Asn
XM_006717630.2:c.2051G>A	XP_006717693.1:p.Ser684Asn
XM_011539291.1:c.2747G>A	XP_011537593.1:p.Arg916Lys
XR_945604.1:n.2936G>A
XR_945605.1:n.2938G>A
NM_000392.5:c.2747G>A MANE Select	NP_000383.2:p.Ser916Asn
XM_006717630.3:c.2051G>A	XP_006717693.1:p.Ser684Asn
XM_011539291.3:c.2747G>A	XP_011537593.1:p.Arg916Lys
XR_945604.3:n.2990G>A
XR_945605.3:n.2990G>A