Canonical Allele Identifier: CA378130498

Gene: ABCC2

Linked Data

• dbSNP Id: rs1462140907
• gnomAD v2: 10-101611259-G-T
• gnomAD v4: 10-99851502-G-T
• MyVariant Identifiers: chr10:g.101611259G>T (hg19) ; chr10:g.99851502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99851502G>T , CM000672.2:g.99851502G>T	GRCh38
NC_000010.10:g.101611259G>T , CM000672.1:g.101611259G>T	GRCh37
NC_000010.9:g.101601249G>T	NCBI36
NG_011798.1:g.73797G>T
NG_011798.2:g.73905G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.4509G>T MANE Select	ENSP00000497274.1:p.Lys1503Asn
ENST00000648523.1:c.579G>T
ENST00000370449.8:c.4509G>T	ENSP00000359478.4:p.Lys1503Asn
NM_000392.4:c.4509G>T	NP_000383.1:p.Lys1503Asn
XM_006717630.2:c.3813G>T	XP_006717693.1:p.Lys1271Asn
XR_945605.1:n.4573G>T
NM_000392.5:c.4509G>T MANE Select	NP_000383.2:p.Lys1503Asn
XM_006717630.3:c.3813G>T	XP_006717693.1:p.Lys1271Asn
XR_945605.3:n.4625G>T