Canonical Allele Identifier: CA357627249

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008329-G-T
• MyVariant Identifiers: chr4:g.88929481G>T (hg19) ; chr4:g.88008329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008329G>T , CM000666.2:g.88008329G>T	GRCh38
NC_000004.11:g.88929481G>T , CM000666.1:g.88929481G>T	GRCh37
NC_000004.10:g.89148505G>T	NCBI36
NG_008604.1:g.5662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+1G>T MANE Select	ENSP00000237596.2:n.595+1G>T
ENST00000237596.6:c.595+1G>T	ENSP00000237596.2:n.595+1G>T
ENST00000506727.1:n.97+1G>T
NM_000297.3:c.595+1G>T	NP_000288.1:n.595+1G>T
XM_011532028.1:c.595+1G>T	XP_011530330.1:n.595+1G>T
XR_244632.2:n.690+1G>T
NR_156488.1:n.682+1G>T
XM_011532028.2:c.595+1G>T	XP_011530330.1:n.595+1G>T
NM_000297.4:c.595+1G>T MANE Select	NP_000288.1:n.595+1G>T
NR_156488.2:n.694+1G>T