Canonical Allele Identifier: CA372803463

Linked Data

dbSNP Id: rs1249859757
gnomAD v2: 9-2729531-G-A
gnomAD v4: 9-2729531-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729531G>A , CM000671.2:g.2729531G>A GRCh38
NC_000009.11:g.2729531G>A , CM000671.1:g.2729531G>A GRCh37
NC_000009.10:g.2719531G>A NCBI36
NG_012181.1:g.17006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1442G>A (KCNV2) MANE Select ENSP00000371514.3:p.Gly481Glu
ENST00000382082.3:c.1442G>A (KCNV2) ENSP00000371514.3:p.Gly481Glu
ENST00000490444.2:c.277-8999C>T (PUM3) ENSP00000474467.1:n.277-8999C>T
NM_133497.3:c.1442G>A (KCNV2) NP_598004.1:p.Gly481Glu
NM_133497.4:c.1442G>A (KCNV2) MANE Select NP_598004.1:p.Gly481Glu