Canonical Allele Identifier: CA378127571

Gene: ABCC2

Linked Data

• dbSNP Id: rs1301456567
• gnomAD v2: 10-101604206-T-C
• gnomAD v3: 10-99844449-T-C
• gnomAD v4: 10-99844449-T-C
• MyVariant Identifiers: chr10:g.101604206T>C (hg19) ; chr10:g.99844449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844449T>C , CM000672.2:g.99844449T>C	GRCh38
NC_000010.10:g.101604206T>C , CM000672.1:g.101604206T>C	GRCh37
NC_000010.9:g.101594196T>C	NCBI36
NG_011798.1:g.66744T>C
NG_011798.2:g.66852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3971T>C MANE Select	ENSP00000497274.1:p.Ile1324Thr
ENST00000649459.1:n.319T>C
ENST00000370449.8:c.3971T>C	ENSP00000359478.4:p.Ile1324Thr
NM_000392.4:c.3971T>C	NP_000383.1:p.Ile1324Thr
XM_006717630.2:c.3275T>C	XP_006717693.1:p.Ile1092Thr
XR_945604.1:n.4160T>C
XR_945605.1:n.4035T>C
NM_000392.5:c.3971T>C MANE Select	NP_000383.2:p.Ile1324Thr
XM_006717630.3:c.3275T>C	XP_006717693.1:p.Ile1092Thr
XR_945604.3:n.4214T>C
XR_945605.3:n.4087T>C