Canonical Allele Identifier: CA440261893

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964457T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043305T>G , CM000666.2:g.88043305T>G	GRCh38
NC_000004.11:g.88964457T>G , CM000666.1:g.88964457T>G	GRCh37
NC_000004.10:g.89183481T>G	NCBI36
NG_008604.1:g.40638T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1167T>G MANE Select	ENSP00000237596.2:p.Ala389=
ENST00000237596.6:c.1167T>G	ENSP00000237596.2:p.Ala389=
ENST00000506367.1:n.614T>G
ENST00000508588.5:c.-351T>G	ENSP00000427131.1:n.-351T>G
NM_000297.3:c.1167T>G	NP_000288.1:p.Ala389=
XM_011532028.1:c.1095-3337T>G	XP_011530330.1:n.1095-3337T>G
XM_011532029.1:c.447T>G	XP_011530331.1:p.Ala149=
XM_011532030.1:c.327T>G	XP_011530332.1:p.Ala109=
XR_244632.2:n.1262T>G
NR_156488.1:n.1254T>G
XM_011532028.2:c.1095-3337T>G	XP_011530330.1:n.1095-3337T>G
XM_011532030.2:c.327T>G	XP_011530332.1:p.Ala109=
NM_000297.4:c.1167T>G MANE Select	NP_000288.1:p.Ala389=
NR_156488.2:n.1266T>G