Canonical Allele Identifier: CA372803810

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729686C>A , CM000671.2:g.2729686C>A GRCh38
NC_000009.11:g.2729686C>A , CM000671.1:g.2729686C>A GRCh37
NC_000009.10:g.2719686C>A NCBI36
NG_012181.1:g.17161C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1597C>A (KCNV2) MANE Select ENSP00000371514.3:p.Leu533Ile
ENST00000382082.3:c.1597C>A (KCNV2) ENSP00000371514.3:p.Leu533Ile
ENST00000490444.2:c.277-9154G>T (PUM3) ENSP00000474467.1:n.277-9154G>T
NM_133497.3:c.1597C>A (KCNV2) NP_598004.1:p.Leu533Ile
NM_133497.4:c.1597C>A (KCNV2) MANE Select NP_598004.1:p.Leu533Ile