Canonical Allele Identifier: CA440268312

Gene: PKD2

Linked Data

• dbSNP Id: rs1323629550
• gnomAD v4: 4-88007778-C-T
• MyVariant Identifiers: chr4:g.88928930C>T (hg19) ; chr4:g.88007778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007778C>T , CM000666.2:g.88007778C>T	GRCh38
NC_000004.11:g.88928930C>T , CM000666.1:g.88928930C>T	GRCh37
NC_000004.10:g.89147954C>T	NCBI36
NG_008604.1:g.5111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.45C>T MANE Select	ENSP00000237596.2:p.Ala15=
ENST00000237596.6:c.45C>T	ENSP00000237596.2:p.Ala15=
NM_000297.3:c.45C>T	NP_000288.1:p.Ala15=
XM_011532028.1:c.45C>T	XP_011530330.1:p.Ala15=
XR_244632.2:n.140C>T
NR_156488.1:n.132C>T
XM_011532028.2:c.45C>T	XP_011530330.1:p.Ala15=
NM_000297.4:c.45C>T MANE Select	NP_000288.1:p.Ala15=
NR_156488.2:n.144C>T