Canonical Allele Identifier: CA100868013

Gene: PKD2

Linked Data

• dbSNP Id: rs1029501022
• gnomAD v2: 4-88968087-A-C
• gnomAD v3: 4-88046935-A-C
• gnomAD v4: 4-88046935-A-C
• MyVariant Identifiers: chr4:g.88968087A>C (hg19) ; chr4:g.88046935A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046935A>C , CM000666.2:g.88046935A>C	GRCh38
NC_000004.11:g.88968087A>C , CM000666.1:g.88968087A>C	GRCh37
NC_000004.10:g.89187111A>C	NCBI36
NG_008604.1:g.44268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+65A>C MANE Select	ENSP00000237596.2:n.1548+65A>C
ENST00000237596.6:c.1548+65A>C	ENSP00000237596.2:n.1548+65A>C
ENST00000508588.5:c.-199+3478A>C	ENSP00000427131.1:n.-199+3478A>C
NM_000297.3:c.1548+65A>C	NP_000288.1:n.1548+65A>C
XM_011532028.1:c.1323+65A>C	XP_011530330.1:n.1323+65A>C
XM_011532029.1:c.828+65A>C	XP_011530331.1:n.828+65A>C
XM_011532030.1:c.708+65A>C	XP_011530332.1:n.708+65A>C
XR_244632.2:n.1643+65A>C
NR_156488.1:n.1635+65A>C
XM_011532028.2:c.1323+65A>C	XP_011530330.1:n.1323+65A>C
XM_011532030.2:c.708+65A>C	XP_011530332.1:n.708+65A>C
NM_000297.4:c.1548+65A>C MANE Select	NP_000288.1:n.1548+65A>C
NR_156488.2:n.1647+65A>C