Canonical Allele Identifier: CA2782685196

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729916_2729917insACA , CM000671.2:g.2729916_2729917insACA	GRCh38
NC_000009.11:g.2729916_2729917insACA , CM000671.1:g.2729916_2729917insACA	GRCh37
NC_000009.10:g.2719916_2719917insACA	NCBI36
NG_012181.1:g.17391_17392insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.*189_*190insACA (KCNV2) MANE Select	ENSP00000371514.3:n.*189_*190insACA
ENST00000382082.3:c.*189_*190insACA (KCNV2)	ENSP00000371514.3:n.*189_*190insACA
ENST00000490444.2:c.277-9385_277-9384insTGT (PUM3)	ENSP00000474467.1:n.277-9385_277-9384insTGT
NM_133497.3:c.*189_*190insACA (KCNV2)	NP_598004.1:n.*189_*190insACA
NM_133497.4:c.*189_*190insACA (KCNV2) MANE Select	NP_598004.1:n.*189_*190insACA