Canonical Allele Identifier: CA372803817

Linked Data

gnomAD v4: 9-2729689-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729689G>C , CM000671.2:g.2729689G>C GRCh38
NC_000009.11:g.2729689G>C , CM000671.1:g.2729689G>C GRCh37
NC_000009.10:g.2719689G>C NCBI36
NG_012181.1:g.17164G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1600G>C (KCNV2) MANE Select ENSP00000371514.3:p.Gly534Arg
ENST00000382082.3:c.1600G>C (KCNV2) ENSP00000371514.3:p.Gly534Arg
ENST00000490444.2:c.277-9157C>G (PUM3) ENSP00000474467.1:n.277-9157C>G
NM_133497.3:c.1600G>C (KCNV2) NP_598004.1:p.Gly534Arg
NM_133497.4:c.1600G>C (KCNV2) MANE Select NP_598004.1:p.Gly534Arg