Canonical Allele Identifier: CA440296740

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2700156
• ClinVar RCV Id: RCV003585472
• gnomAD v4: 4-88008057-C-T
• MyVariant Identifiers: chr4:g.88929209C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008057C>T , CM000666.2:g.88008057C>T	GRCh38
NC_000004.11:g.88929209C>T , CM000666.1:g.88929209C>T	GRCh37
NC_000004.10:g.89148233C>T	NCBI36
NG_008604.1:g.5390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.324C>T MANE Select	ENSP00000237596.2:p.Gly108=
ENST00000237596.6:c.324C>T	ENSP00000237596.2:p.Gly108=
NM_000297.3:c.324C>T	NP_000288.1:p.Gly108=
XM_011532028.1:c.324C>T	XP_011530330.1:p.Gly108=
XR_244632.2:n.419C>T
NR_156488.1:n.411C>T
XM_011532028.2:c.324C>T	XP_011530330.1:p.Gly108=
NM_000297.4:c.324C>T MANE Select	NP_000288.1:p.Gly108=
NR_156488.2:n.423C>T