Canonical Allele Identifier: CA440263324

Gene: PKD2

Linked Data

• dbSNP Id: rs1359265358
• gnomAD v4: 4-88046813-T-A
• MyVariant Identifiers: chr4:g.88967965T>A (hg19) ; chr4:g.88046813T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046813T>A , CM000666.2:g.88046813T>A	GRCh38
NC_000004.11:g.88967965T>A , CM000666.1:g.88967965T>A	GRCh37
NC_000004.10:g.89186989T>A	NCBI36
NG_008604.1:g.44146T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1491T>A MANE Select	ENSP00000237596.2:p.Ile497=
ENST00000237596.6:c.1491T>A	ENSP00000237596.2:p.Ile497=
ENST00000508588.5:c.-199+3356T>A	ENSP00000427131.1:n.-199+3356T>A
NM_000297.3:c.1491T>A	NP_000288.1:p.Ile497=
XM_011532028.1:c.1266T>A	XP_011530330.1:p.Ile422=
XM_011532029.1:c.771T>A	XP_011530331.1:p.Ile257=
XM_011532030.1:c.651T>A	XP_011530332.1:p.Ile217=
XR_244632.2:n.1586T>A
NR_156488.1:n.1578T>A
XM_011532028.2:c.1266T>A	XP_011530330.1:p.Ile422=
XM_011532030.2:c.651T>A	XP_011530332.1:p.Ile217=
NM_000297.4:c.1491T>A MANE Select	NP_000288.1:p.Ile497=
NR_156488.2:n.1590T>A