Canonical Allele Identifier: CA440297109

Gene: PKD2

Linked Data

• dbSNP Id: rs2110080663
• gnomAD v4: 4-88008258-T-C
• MyVariant Identifiers: chr4:g.88929410T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008258T>C , CM000666.2:g.88008258T>C	GRCh38
NC_000004.11:g.88929410T>C , CM000666.1:g.88929410T>C	GRCh37
NC_000004.10:g.89148434T>C	NCBI36
NG_008604.1:g.5591T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.525T>C MANE Select	ENSP00000237596.2:p.His175=
ENST00000237596.6:c.525T>C	ENSP00000237596.2:p.His175=
ENST00000506727.1:n.27T>C
NM_000297.3:c.525T>C	NP_000288.1:p.His175=
XM_011532028.1:c.525T>C	XP_011530330.1:p.His175=
XR_244632.2:n.620T>C
NR_156488.1:n.612T>C
XM_011532028.2:c.525T>C	XP_011530330.1:p.His175=
NM_000297.4:c.525T>C MANE Select	NP_000288.1:p.His175=
NR_156488.2:n.624T>C