Canonical Allele Identifier: CA372803796

Linked Data

gnomAD v4: 9-2729680-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729680T>C , CM000671.2:g.2729680T>C GRCh38
NC_000009.11:g.2729680T>C , CM000671.1:g.2729680T>C GRCh37
NC_000009.10:g.2719680T>C NCBI36
NG_012181.1:g.17155T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1591T>C (KCNV2) MANE Select ENSP00000371514.3:p.Cys531Arg
ENST00000382082.3:c.1591T>C (KCNV2) ENSP00000371514.3:p.Cys531Arg
ENST00000490444.2:c.277-9148A>G (PUM3) ENSP00000474467.1:n.277-9148A>G
NM_133497.3:c.1591T>C (KCNV2) NP_598004.1:p.Cys531Arg
NM_133497.4:c.1591T>C (KCNV2) MANE Select NP_598004.1:p.Cys531Arg