Canonical Allele Identifier: CA357619754

Gene: PKD2

Linked Data

• dbSNP Id: rs1431354331
• gnomAD v3: 4-88046836-G-A
• gnomAD v4: 4-88046836-G-A
• MyVariant Identifiers: chr4:g.88967988G>A (hg19) ; chr4:g.88046836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046836G>A , CM000666.2:g.88046836G>A	GRCh38
NC_000004.11:g.88967988G>A , CM000666.1:g.88967988G>A	GRCh37
NC_000004.10:g.89187012G>A	NCBI36
NG_008604.1:g.44169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1514G>A MANE Select	ENSP00000237596.2:p.Ser505Asn
ENST00000237596.6:c.1514G>A	ENSP00000237596.2:p.Ser505Asn
ENST00000508588.5:c.-199+3379G>A	ENSP00000427131.1:n.-199+3379G>A
NM_000297.3:c.1514G>A	NP_000288.1:p.Ser505Asn
XM_011532028.1:c.1289G>A	XP_011530330.1:p.Ser430Asn
XM_011532029.1:c.794G>A	XP_011530331.1:p.Ser265Asn
XM_011532030.1:c.674G>A	XP_011530332.1:p.Ser225Asn
XR_244632.2:n.1609G>A
NR_156488.1:n.1601G>A
XM_011532028.2:c.1289G>A	XP_011530330.1:p.Ser430Asn
XM_011532030.2:c.674G>A	XP_011530332.1:p.Ser225Asn
NM_000297.4:c.1514G>A MANE Select	NP_000288.1:p.Ser505Asn
NR_156488.2:n.1613G>A