Canonical Allele Identifier: CA357619591

Gene: PKD2

Linked Data

• dbSNP Id: rs746049242
• gnomAD v4: 4-88046809-G-T
• MyVariant Identifiers: chr4:g.88967961G>T (hg19) ; chr4:g.88046809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046809G>T , CM000666.2:g.88046809G>T	GRCh38
NC_000004.11:g.88967961G>T , CM000666.1:g.88967961G>T	GRCh37
NC_000004.10:g.89186985G>T	NCBI36
NG_008604.1:g.44142G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1487G>T MANE Select	ENSP00000237596.2:p.Arg496Leu
ENST00000237596.6:c.1487G>T	ENSP00000237596.2:p.Arg496Leu
ENST00000508588.5:c.-199+3352G>T	ENSP00000427131.1:n.-199+3352G>T
NM_000297.3:c.1487G>T	NP_000288.1:p.Arg496Leu
XM_011532028.1:c.1262G>T	XP_011530330.1:p.Arg421Leu
XM_011532029.1:c.767G>T	XP_011530331.1:p.Arg256Leu
XM_011532030.1:c.647G>T	XP_011530332.1:p.Arg216Leu
XR_244632.2:n.1582G>T
NR_156488.1:n.1574G>T
XM_011532028.2:c.1262G>T	XP_011530330.1:p.Arg421Leu
XM_011532030.2:c.647G>T	XP_011530332.1:p.Arg216Leu
NM_000297.4:c.1487G>T MANE Select	NP_000288.1:p.Arg496Leu
NR_156488.2:n.1586G>T