Canonical Allele Identifier: CA357615423

Gene: PKD2

Linked Data

• gnomAD v4: 4-88043250-A-G
• MyVariant Identifiers: chr4:g.88964402A>G (hg19) ; chr4:g.88043250A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043250A>G , CM000666.2:g.88043250A>G	GRCh38
NC_000004.11:g.88964402A>G , CM000666.1:g.88964402A>G	GRCh37
NC_000004.10:g.89183426A>G	NCBI36
NG_008604.1:g.40583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1112A>G MANE Select	ENSP00000237596.2:p.Glu371Gly
ENST00000237596.6:c.1112A>G	ENSP00000237596.2:p.Glu371Gly
ENST00000506367.1:n.559A>G
NM_000297.3:c.1112A>G	NP_000288.1:p.Glu371Gly
XM_011532028.1:c.1095-3392A>G	XP_011530330.1:n.1095-3392A>G
XM_011532029.1:c.392A>G	XP_011530331.1:p.Glu131Gly
XM_011532030.1:c.272A>G	XP_011530332.1:p.Glu91Gly
XR_244632.2:n.1207A>G
NR_156488.1:n.1199A>G
XM_011532028.2:c.1095-3392A>G	XP_011530330.1:n.1095-3392A>G
XM_011532030.2:c.272A>G	XP_011530332.1:p.Glu91Gly
NM_000297.4:c.1112A>G MANE Select	NP_000288.1:p.Glu371Gly
NR_156488.2:n.1211A>G