Canonical Allele Identifier: CA1065142851

Gene: PKD2

Linked Data

• dbSNP Id: rs1726270816
• gnomAD v3: 4-88008424-C-CTCGCATCCCCTCTGCGTT
• gnomAD v4: 4-88008424-C-CTCGCATCCCCTCTGCGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008425_88008442dup , CM000666.2:g.88008425_88008442dup	GRCh38
NC_000004.11:g.88929577_88929594dup , CM000666.1:g.88929577_88929594dup	GRCh37
NC_000004.10:g.89148601_89148618dup	NCBI36
NG_008604.1:g.5758_5775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+97_595+114dup MANE Select	ENSP00000237596.2:n.595+97_595+114dup
ENST00000237596.6:c.595+97_595+114dup	ENSP00000237596.2:n.595+97_595+114dup
ENST00000506727.1:n.97+97_97+114dup
NM_000297.3:c.595+97_595+114dup	NP_000288.1:n.595+97_595+114dup
XM_011532028.1:c.595+97_595+114dup	XP_011530330.1:n.595+97_595+114dup
XR_244632.2:n.690+97_690+114dup
NR_156488.1:n.682+97_682+114dup
XM_011532028.2:c.595+97_595+114dup	XP_011530330.1:n.595+97_595+114dup
NM_000297.4:c.595+97_595+114dup MANE Select	NP_000288.1:n.595+97_595+114dup
NR_156488.2:n.694+97_694+114dup