Canonical Allele Identifier: CA2689245743

Gene: KCNV2 PUM3

Linked Data

• gnomAD v4: 9-2729672-T-TAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729673_2729674dup , CM000671.2:g.2729673_2729674dup	GRCh38
NC_000009.11:g.2729673_2729674dup , CM000671.1:g.2729673_2729674dup	GRCh37
NC_000009.10:g.2719673_2719674dup	NCBI36
NG_012181.1:g.17148_17149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1584_1585dup (KCNV2) MANE Select	ENSP00000371514.3:p.Ala529GlufsTer22
ENST00000382082.3:c.1584_1585dup (KCNV2)	ENSP00000371514.3:p.Ala529GlufsTer22
ENST00000490444.2:c.277-9142_277-9141dup (PUM3)	ENSP00000474467.1:n.277-9142_277-9141dup
NM_133497.3:c.1584_1585dup (KCNV2)	NP_598004.1:p.Ala529GlufsTer22
NM_133497.4:c.1584_1585dup (KCNV2) MANE Select	NP_598004.1:p.Ala529GlufsTer22