Canonical Allele Identifier: CA553085958

Gene: PKD2

Linked Data

• dbSNP Id: rs1232684620
• gnomAD v2: 4-88968074-A-T
• gnomAD v4: 4-88046922-A-T
• MyVariant Identifiers: chr4:g.88968074A>T (hg19) ; chr4:g.88046922A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046922A>T , CM000666.2:g.88046922A>T	GRCh38
NC_000004.11:g.88968074A>T , CM000666.1:g.88968074A>T	GRCh37
NC_000004.10:g.89187098A>T	NCBI36
NG_008604.1:g.44255A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+52A>T MANE Select	ENSP00000237596.2:n.1548+52A>T
ENST00000237596.6:c.1548+52A>T	ENSP00000237596.2:n.1548+52A>T
ENST00000508588.5:c.-199+3465A>T	ENSP00000427131.1:n.-199+3465A>T
NM_000297.3:c.1548+52A>T	NP_000288.1:n.1548+52A>T
XM_011532028.1:c.1323+52A>T	XP_011530330.1:n.1323+52A>T
XM_011532029.1:c.828+52A>T	XP_011530331.1:n.828+52A>T
XM_011532030.1:c.708+52A>T	XP_011530332.1:n.708+52A>T
XR_244632.2:n.1643+52A>T
NR_156488.1:n.1635+52A>T
XM_011532028.2:c.1323+52A>T	XP_011530330.1:n.1323+52A>T
XM_011532030.2:c.708+52A>T	XP_011530332.1:n.708+52A>T
NM_000297.4:c.1548+52A>T MANE Select	NP_000288.1:n.1548+52A>T
NR_156488.2:n.1647+52A>T