Canonical Allele Identifier: CA100868083

Gene: PKD2

Linked Data

• dbSNP Id: rs921497009
• gnomAD v3: 4-88047091-C-G
• gnomAD v4: 4-88047091-C-G
• MyVariant Identifiers: chr4:g.88968243C>G (hg19) ; chr4:g.88047091C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047091C>G , CM000666.2:g.88047091C>G	GRCh38
NC_000004.11:g.88968243C>G , CM000666.1:g.88968243C>G	GRCh37
NC_000004.10:g.89187267C>G	NCBI36
NG_008604.1:g.44424C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+221C>G MANE Select	ENSP00000237596.2:n.1548+221C>G
ENST00000237596.6:c.1548+221C>G	ENSP00000237596.2:n.1548+221C>G
ENST00000508588.5:c.-199+3634C>G	ENSP00000427131.1:n.-199+3634C>G
NM_000297.3:c.1548+221C>G	NP_000288.1:n.1548+221C>G
XM_011532028.1:c.1323+221C>G	XP_011530330.1:n.1323+221C>G
XM_011532029.1:c.828+221C>G	XP_011530331.1:n.828+221C>G
XM_011532030.1:c.708+221C>G	XP_011530332.1:n.708+221C>G
XR_244632.2:n.1643+221C>G
NR_156488.1:n.1635+221C>G
XM_011532028.2:c.1323+221C>G	XP_011530330.1:n.1323+221C>G
XM_011532030.2:c.708+221C>G	XP_011530332.1:n.708+221C>G
NM_000297.4:c.1548+221C>G MANE Select	NP_000288.1:n.1548+221C>G
NR_156488.2:n.1647+221C>G