Canonical Allele Identifier: CA2671365341

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008425-T-TCGCATCCCCTCTGCGTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008429_88008446dup , CM000666.2:g.88008429_88008446dup	GRCh38
NC_000004.11:g.88929581_88929598dup , CM000666.1:g.88929581_88929598dup	GRCh37
NC_000004.10:g.89148605_89148622dup	NCBI36
NG_008604.1:g.5762_5779dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+101_595+118dup MANE Select	ENSP00000237596.2:n.595+101_595+118dup
ENST00000237596.6:c.595+101_595+118dup	ENSP00000237596.2:n.595+101_595+118dup
ENST00000506727.1:n.97+101_97+118dup
NM_000297.3:c.595+101_595+118dup	NP_000288.1:n.595+101_595+118dup
XM_011532028.1:c.595+101_595+118dup	XP_011530330.1:n.595+101_595+118dup
XR_244632.2:n.690+101_690+118dup
NR_156488.1:n.682+101_682+118dup
XM_011532028.2:c.595+101_595+118dup	XP_011530330.1:n.595+101_595+118dup
NM_000297.4:c.595+101_595+118dup MANE Select	NP_000288.1:n.595+101_595+118dup
NR_156488.2:n.694+101_694+118dup