Canonical Allele Identifier: CA119601
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8417
ClinVar RCV Id: RCV000008928
dbSNP Id: rs387906396

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99811604T>C , CM000672.2:g.99811604T>C GRCh38
NC_000010.10:g.101571361T>C , CM000672.1:g.101571361T>C GRCh37
NC_000010.9:g.101561351T>C NCBI36
NG_011798.1:g.33899T>C
NG_011798.2:g.34007T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.1967+2T>C MANE Select ENSP00000497274.1:p.=
ENST00000370449.8:c.1967+2T>C ENSP00000359478.4:p.=
NM_000392.4:c.1967+2T>C NP_000383.1:p.=
XM_006717630.2:c.1271+2T>C XP_006717693.1:p.=
XM_006717631.2:c.1967+2T>C XP_006717694.1:p.=
XM_011539291.1:c.1967+2T>C XP_011537593.1:p.=
XR_945604.1:n.2156+2T>C
XR_945605.1:n.2158+2T>C
NM_000392.5:c.1967+2T>C MANE Select NP_000383.2:p.=
XM_006717630.3:c.1271+2T>C XP_006717693.1:p.=
XM_006717631.4:c.1967+2T>C XP_006717694.1:p.=
XM_011539291.3:c.1967+2T>C XP_011537593.1:p.=
XM_017015675.2:c.1967+2T>C XP_016871164.1:p.=
XR_945604.3:n.2210+2T>C
XR_945605.3:n.2210+2T>C