Canonical Allele Identifier: CA372803568

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729578T>G , CM000671.2:g.2729578T>G GRCh38
NC_000009.11:g.2729578T>G , CM000671.1:g.2729578T>G GRCh37
NC_000009.10:g.2719578T>G NCBI36
NG_012181.1:g.17053T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1489T>G (KCNV2) MANE Select ENSP00000371514.3:p.Ser497Ala
ENST00000382082.3:c.1489T>G (KCNV2) ENSP00000371514.3:p.Ser497Ala
ENST00000490444.2:c.277-9046A>C (PUM3) ENSP00000474467.1:n.277-9046A>C
NM_133497.3:c.1489T>G (KCNV2) NP_598004.1:p.Ser497Ala
NM_133497.4:c.1489T>G (KCNV2) MANE Select NP_598004.1:p.Ser497Ala