Canonical Allele Identifier: CA5643979

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 502795
• ClinVar RCV Id: RCV000593239
• dbSNP Id: rs765304225
• ExAC: 10:101604108 G / A
• gnomAD v2: 10-101604108-G-A
• gnomAD v3: 10-99844351-G-A
• gnomAD v4: 10-99844351-G-A
• MyVariant Identifiers: chr10:g.101604108G>A (hg19) ; chr10:g.99844351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844351G>A , CM000672.2:g.99844351G>A	GRCh38
NC_000010.10:g.101604108G>A , CM000672.1:g.101604108G>A	GRCh37
NC_000010.9:g.101594098G>A	NCBI36
NG_011798.1:g.66646G>A
NG_011798.2:g.66754G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.3873G>A MANE Select	ENSP00000497274.1:p.Pro1291=
ENST00000649459.1:n.221G>A
ENST00000370449.8:c.3873G>A	ENSP00000359478.4:p.Pro1291=
NM_000392.4:c.3873G>A	NP_000383.1:p.Pro1291=
XM_006717630.2:c.3177G>A	XP_006717693.1:p.Pro1059=
XR_945604.1:n.4062G>A
XR_945605.1:n.3937G>A
NM_000392.5:c.3873G>A MANE Select	NP_000383.2:p.Pro1291=
XM_006717630.3:c.3177G>A	XP_006717693.1:p.Pro1059=
XR_945604.3:n.4116G>A
XR_945605.3:n.3989G>A