Canonical Allele Identifier: CA357619504

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046796-A-T
• MyVariant Identifiers: chr4:g.88967948A>T (hg19) ; chr4:g.88046796A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046796A>T , CM000666.2:g.88046796A>T	GRCh38
NC_000004.11:g.88967948A>T , CM000666.1:g.88967948A>T	GRCh37
NC_000004.10:g.89186972A>T	NCBI36
NG_008604.1:g.44129A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1474A>T MANE Select	ENSP00000237596.2:p.Ile492Leu
ENST00000237596.6:c.1474A>T	ENSP00000237596.2:p.Ile492Leu
ENST00000508588.5:c.-199+3339A>T	ENSP00000427131.1:n.-199+3339A>T
NM_000297.3:c.1474A>T	NP_000288.1:p.Ile492Leu
XM_011532028.1:c.1249A>T	XP_011530330.1:p.Ile417Leu
XM_011532029.1:c.754A>T	XP_011530331.1:p.Ile252Leu
XM_011532030.1:c.634A>T	XP_011530332.1:p.Ile212Leu
XR_244632.2:n.1569A>T
NR_156488.1:n.1561A>T
XM_011532028.2:c.1249A>T	XP_011530330.1:p.Ile417Leu
XM_011532030.2:c.634A>T	XP_011530332.1:p.Ile212Leu
NM_000297.4:c.1474A>T MANE Select	NP_000288.1:p.Ile492Leu
NR_156488.2:n.1573A>T