Canonical Allele Identifier: CA2516862744

Gene: KCNV2 PUM3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729349_2729350insATGG , CM000671.2:g.2729349_2729350insATGG	GRCh38
NC_000009.11:g.2729349_2729350insATGG , CM000671.1:g.2729349_2729350insATGG	GRCh37
NC_000009.10:g.2719349_2719350insATGG	NCBI36
NG_012181.1:g.16824_16825insATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-97_1357-96insATGG (KCNV2) MANE Select	ENSP00000371514.3:n.1357-97_1357-96insATGG
ENST00000382082.3:c.1357-97_1357-96insATGG (KCNV2)	ENSP00000371514.3:n.1357-97_1357-96insATGG
ENST00000490444.2:c.277-8818_277-8817insCCAT (PUM3)	ENSP00000474467.1:n.277-8818_277-8817insCCAT
NM_133497.3:c.1357-97_1357-96insATGG (KCNV2)	NP_598004.1:n.1357-97_1357-96insATGG
XR_929202.1:n.2002-97_2002-96insATGG (KCNV2)
XR_929203.1:n.2325_2326insATGG (KCNV2)
NM_133497.4:c.1357-97_1357-96insATGG (KCNV2) MANE Select	NP_598004.1:n.1357-97_1357-96insATGG