Canonical Allele Identifier: CA3003923

Gene: PKD2

Linked Data

• dbSNP Id: rs761548665
• ExAC: 4:88967748 A / G
• gnomAD v2: 4-88967748-A-G
• gnomAD v3: 4-88046596-A-G
• gnomAD v4: 4-88046596-A-G
• MyVariant Identifiers: chr4:g.88967748A>G (hg19) ; chr4:g.88046596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046596A>G , CM000666.2:g.88046596A>G	GRCh38
NC_000004.11:g.88967748A>G , CM000666.1:g.88967748A>G	GRCh37
NC_000004.10:g.89186772A>G	NCBI36
NG_008604.1:g.43929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1320-46A>G MANE Select	ENSP00000237596.2:n.1320-46A>G
ENST00000237596.6:c.1320-46A>G	ENSP00000237596.2:n.1320-46A>G
ENST00000508588.5:c.-199+3139A>G	ENSP00000427131.1:n.-199+3139A>G
NM_000297.3:c.1320-46A>G	NP_000288.1:n.1320-46A>G
XM_011532028.1:c.1095-46A>G	XP_011530330.1:n.1095-46A>G
XM_011532029.1:c.600-46A>G	XP_011530331.1:n.600-46A>G
XM_011532030.1:c.480-46A>G	XP_011530332.1:n.480-46A>G
XR_244632.2:n.1415-46A>G
NR_156488.1:n.1407-46A>G
XM_011532028.2:c.1095-46A>G	XP_011530330.1:n.1095-46A>G
XM_011532030.2:c.480-46A>G	XP_011530332.1:n.480-46A>G
NM_000297.4:c.1320-46A>G MANE Select	NP_000288.1:n.1320-46A>G
NR_156488.2:n.1419-46A>G