Canonical Allele Identifier: CA357619514

Gene: PKD2

Linked Data

• dbSNP Id: rs1249795118
• gnomAD v2: 4-88967950-A-G
• gnomAD v4: 4-88046798-A-G
• MyVariant Identifiers: chr4:g.88967950A>G (hg19) ; chr4:g.88046798A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046798A>G , CM000666.2:g.88046798A>G	GRCh38
NC_000004.11:g.88967950A>G , CM000666.1:g.88967950A>G	GRCh37
NC_000004.10:g.89186974A>G	NCBI36
NG_008604.1:g.44131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1476A>G MANE Select	ENSP00000237596.2:p.Ile492Met
ENST00000237596.6:c.1476A>G	ENSP00000237596.2:p.Ile492Met
ENST00000508588.5:c.-199+3341A>G	ENSP00000427131.1:n.-199+3341A>G
NM_000297.3:c.1476A>G	NP_000288.1:p.Ile492Met
XM_011532028.1:c.1251A>G	XP_011530330.1:p.Ile417Met
XM_011532029.1:c.756A>G	XP_011530331.1:p.Ile252Met
XM_011532030.1:c.636A>G	XP_011530332.1:p.Ile212Met
XR_244632.2:n.1571A>G
NR_156488.1:n.1563A>G
XM_011532028.2:c.1251A>G	XP_011530330.1:p.Ile417Met
XM_011532030.2:c.636A>G	XP_011530332.1:p.Ile212Met
NM_000297.4:c.1476A>G MANE Select	NP_000288.1:p.Ile492Met
NR_156488.2:n.1575A>G