Canonical Allele Identifier: CA201196
Gene: ABCC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 194471
ClinVar RCV Id: RCV000174845
dbSNP Id: rs146405172

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99811603G>A , CM000672.2:g.99811603G>A GRCh38
NC_000010.10:g.101571360G>A , CM000672.1:g.101571360G>A GRCh37
NC_000010.9:g.101561350G>A NCBI36
NG_011798.1:g.33898G>A
NG_011798.2:g.34006G>A

Transcript Alleles

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