Canonical Allele Identifier: CA552866422

Gene: PKD2

Linked Data

• dbSNP Id: rs1239084661
• gnomAD v2: 4-88929500-A-G
• gnomAD v4: 4-88008348-A-G
• MyVariant Identifiers: chr4:g.88929500A>G (hg19) ; chr4:g.88008348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008348A>G , CM000666.2:g.88008348A>G	GRCh38
NC_000004.11:g.88929500A>G , CM000666.1:g.88929500A>G	GRCh37
NC_000004.10:g.89148524A>G	NCBI36
NG_008604.1:g.5681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+20A>G MANE Select	ENSP00000237596.2:n.595+20A>G
ENST00000237596.6:c.595+20A>G	ENSP00000237596.2:n.595+20A>G
ENST00000506727.1:n.97+20A>G
NM_000297.3:c.595+20A>G	NP_000288.1:n.595+20A>G
XM_011532028.1:c.595+20A>G	XP_011530330.1:n.595+20A>G
XR_244632.2:n.690+20A>G
NR_156488.1:n.682+20A>G
XM_011532028.2:c.595+20A>G	XP_011530330.1:n.595+20A>G
NM_000297.4:c.595+20A>G MANE Select	NP_000288.1:n.595+20A>G
NR_156488.2:n.694+20A>G