Canonical Allele Identifier: CA372803894

Linked Data

gnomAD v4: 9-2729726-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2729726A>G , CM000671.2:g.2729726A>G GRCh38
NC_000009.11:g.2729726A>G , CM000671.1:g.2729726A>G GRCh37
NC_000009.10:g.2719726A>G NCBI36
NG_012181.1:g.17201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.1637A>G (KCNV2) MANE Select ENSP00000371514.3:p.Ter546Trp
ENST00000382082.3:c.1637A>G (KCNV2) ENSP00000371514.3:p.Ter546Trp
ENST00000490444.2:c.277-9194T>C (PUM3) ENSP00000474467.1:n.277-9194T>C
NM_133497.3:c.1637A>G (KCNV2) NP_598004.1:p.Ter546Trp
NM_133497.4:c.1637A>G (KCNV2) MANE Select NP_598004.1:p.Ter546Trp