Canonical Allele Identifier: CA799594037

Gene: PKD2

Linked Data

• dbSNP Id: rs1466490353
• gnomAD v3: 4-88008440-G-C
• gnomAD v4: 4-88008440-G-C
• MyVariant Identifiers: chr4:g.88929592G>C (hg19) ; chr4:g.88008440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008440G>C , CM000666.2:g.88008440G>C	GRCh38
NC_000004.11:g.88929592G>C , CM000666.1:g.88929592G>C	GRCh37
NC_000004.10:g.89148616G>C	NCBI36
NG_008604.1:g.5773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+112G>C MANE Select	ENSP00000237596.2:n.595+112G>C
ENST00000237596.6:c.595+112G>C	ENSP00000237596.2:n.595+112G>C
ENST00000506727.1:n.97+112G>C
NM_000297.3:c.595+112G>C	NP_000288.1:n.595+112G>C
XM_011532028.1:c.595+112G>C	XP_011530330.1:n.595+112G>C
XR_244632.2:n.690+112G>C
NR_156488.1:n.682+112G>C
XM_011532028.2:c.595+112G>C	XP_011530330.1:n.595+112G>C
NM_000297.4:c.595+112G>C MANE Select	NP_000288.1:n.595+112G>C
NR_156488.2:n.694+112G>C