Canonical Allele Identifier: CA1828287935
Gene: KCNV2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717967G= , CM000671.2:g.2717967G= GRCh38
NC_000009.11:g.2717967G= , CM000671.1:g.2717967G= GRCh37
NC_000009.10:g.2707967G= NCBI36
NG_012181.1:g.5442G=

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.228G= MANE Select ENSP00000371514.3:p.Gln76=
ENST00000382082.3:c.228G= ENSP00000371514.3:p.Gln76=
NM_133497.3:c.228G= NP_598004.1:p.Gln76=
XR_929202.1:n.729G=
XR_929203.1:n.729G=
NM_133497.4:c.228G= MANE Select NP_598004.1:p.Gln76=
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