Canonical Allele Identifier: CA187989760

Gene: KCNV2 PUM3

Linked Data

• dbSNP Id: rs150880112
• MyVariant Identifiers: chr9:g.2729222G>C (hg19) ; chr9:g.2729222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729222G>C , CM000671.2:g.2729222G>C	GRCh38
NC_000009.11:g.2729222G>C , CM000671.1:g.2729222G>C	GRCh37
NC_000009.10:g.2719222G>C	NCBI36
NG_012181.1:g.16697G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1357-224G>C (KCNV2) MANE Select	ENSP00000371514.3:n.1357-224G>C
ENST00000382082.3:c.1357-224G>C (KCNV2)	ENSP00000371514.3:n.1357-224G>C
ENST00000490444.2:c.277-8690C>G (PUM3)	ENSP00000474467.1:n.277-8690C>G
NM_133497.3:c.1357-224G>C (KCNV2)	NP_598004.1:n.1357-224G>C
XR_929202.1:n.2002-224G>C (KCNV2)
XR_929203.1:n.2198G>C (KCNV2)
NM_133497.4:c.1357-224G>C (KCNV2) MANE Select	NP_598004.1:n.1357-224G>C