Canonical Allele Identifier: CA357615424

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964402A>T (hg19) ; chr4:g.88043250A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1112A>T MANE Select	ENSP00000237596.2:p.Glu371Val
ENST00000237596.6:c.1112A>T	ENSP00000237596.2:p.Glu371Val
ENST00000506367.1:n.559A>T
NM_000297.3:c.1112A>T	NP_000288.1:p.Glu371Val
XM_011532028.1:c.1095-3392A>T	XP_011530330.1:n.1095-3392A>T
XM_011532029.1:c.392A>T	XP_011530331.1:p.Glu131Val
XM_011532030.1:c.272A>T	XP_011530332.1:p.Glu91Val
XR_244632.2:n.1207A>T
NR_156488.1:n.1199A>T
XM_011532028.2:c.1095-3392A>T	XP_011530330.1:n.1095-3392A>T
XM_011532030.2:c.272A>T	XP_011530332.1:p.Glu91Val
NM_000297.4:c.1112A>T MANE Select	NP_000288.1:p.Glu371Val
NR_156488.2:n.1211A>T