Canonical Allele Identifier: CA100868076

Gene: PKD2

Linked Data

• dbSNP Id: rs990138297
• gnomAD v2: 4-88968241-C-T
• gnomAD v3: 4-88047089-C-T
• gnomAD v4: 4-88047089-C-T
• MyVariant Identifiers: chr4:g.88968241C>T (hg19) ; chr4:g.88047089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047089C>T , CM000666.2:g.88047089C>T	GRCh38
NC_000004.11:g.88968241C>T , CM000666.1:g.88968241C>T	GRCh37
NC_000004.10:g.89187265C>T	NCBI36
NG_008604.1:g.44422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+219C>T MANE Select	ENSP00000237596.2:n.1548+219C>T
ENST00000237596.6:c.1548+219C>T	ENSP00000237596.2:n.1548+219C>T
ENST00000508588.5:c.-199+3632C>T	ENSP00000427131.1:n.-199+3632C>T
NM_000297.3:c.1548+219C>T	NP_000288.1:n.1548+219C>T
XM_011532028.1:c.1323+219C>T	XP_011530330.1:n.1323+219C>T
XM_011532029.1:c.828+219C>T	XP_011530331.1:n.828+219C>T
XM_011532030.1:c.708+219C>T	XP_011530332.1:n.708+219C>T
XR_244632.2:n.1643+219C>T
NR_156488.1:n.1635+219C>T
XM_011532028.2:c.1323+219C>T	XP_011530330.1:n.1323+219C>T
XM_011532030.2:c.708+219C>T	XP_011530332.1:n.708+219C>T
NM_000297.4:c.1548+219C>T MANE Select	NP_000288.1:n.1548+219C>T
NR_156488.2:n.1647+219C>T