Canonical Allele Identifier: CA1474562076

Gene: PKD2

Linked Data

• dbSNP Id: rs1646776250
• gnomAD v4: 4-88007684-AGCGCCGAGCGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007691_88007702del , CM000666.2:g.88007691_88007702del	GRCh38
NC_000004.11:g.88928843_88928854del , CM000666.1:g.88928843_88928854del	GRCh37
NC_000004.10:g.89147867_89147878del	NCBI36
NG_008604.1:g.5024_5035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.-43_-32del MANE Select	ENSP00000237596.2:n.-43_-32del
ENST00000237596.6:c.-43_-32del	ENSP00000237596.2:n.-43_-32del
NM_000297.3:c.-43_-32del	NP_000288.1:n.-43_-32del
XM_011532028.1:c.-43_-32del	XP_011530330.1:n.-43_-32del
XR_244632.2:n.53_64del
NR_156488.1:n.45_56del
XM_011532028.2:c.-43_-32del	XP_011530330.1:n.-43_-32del
NM_000297.4:c.-43_-32del MANE Select	NP_000288.1:n.-43_-32del
NR_156488.2:n.57_68del