Canonical Allele Identifier: CA1828287946
Gene: KCNV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717973_2717974delinsAG , CM000671.2:g.2717973_2717974delinsAG GRCh38
NC_000009.11:g.2717973_2717974delinsAG , CM000671.1:g.2717973_2717974delinsAG GRCh37
NC_000009.10:g.2707973_2707974delinsAG NCBI36
NG_012181.1:g.5448_5449delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.234_235delinsAG MANE Select ENSP00000371514.3:p.Ala78=
ENST00000382082.3:c.234_235delinsAG ENSP00000371514.3:p.Ala78=
NM_133497.3:c.234_235delinsAG NP_598004.1:p.Ala78=
XR_929202.1:n.735_736delinsAG
XR_929203.1:n.735_736delinsAG
NM_133497.4:c.234_235delinsAG MANE Select NP_598004.1:p.Ala78=