Canonical Allele Identifier: CA372803853

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729708C>T , CM000671.2:g.2729708C>T GRCh38
NC_000009.11:g.2729708C>T , CM000671.1:g.2729708C>T GRCh37
NC_000009.10:g.2719708C>T NCBI36
NG_012181.1:g.17183C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1619C>T (KCNV2) MANE Select ENSP00000371514.3:p.Thr540Ile
ENST00000382082.3:c.1619C>T (KCNV2) ENSP00000371514.3:p.Thr540Ile
ENST00000490444.2:c.277-9176G>A (PUM3) ENSP00000474467.1:n.277-9176G>A
NM_133497.3:c.1619C>T (KCNV2) NP_598004.1:p.Thr540Ile
NM_133497.4:c.1619C>T (KCNV2) MANE Select NP_598004.1:p.Thr540Ile