Canonical Allele Identifier: CA372803413

Linked Data

dbSNP Id: rs1256190004
gnomAD v2: 9-2729507-T-G
gnomAD v4: 9-2729507-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729507T>G , CM000671.2:g.2729507T>G GRCh38
NC_000009.11:g.2729507T>G , CM000671.1:g.2729507T>G GRCh37
NC_000009.10:g.2719507T>G NCBI36
NG_012181.1:g.16982T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1418T>G (KCNV2) MANE Select ENSP00000371514.3:p.Phe473Cys
ENST00000382082.3:c.1418T>G (KCNV2) ENSP00000371514.3:p.Phe473Cys
ENST00000490444.2:c.277-8975A>C (PUM3) ENSP00000474467.1:n.277-8975A>C
NM_133497.3:c.1418T>G (KCNV2) NP_598004.1:p.Phe473Cys
XR_929202.1:n.2063T>G (KCNV2)
NM_133497.4:c.1418T>G (KCNV2) MANE Select NP_598004.1:p.Phe473Cys