Canonical Allele Identifier: CA357615518

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043291A>G , CM000666.2:g.88043291A>G	GRCh38
NC_000004.11:g.88964443A>G , CM000666.1:g.88964443A>G	GRCh37
NC_000004.10:g.89183467A>G	NCBI36
NG_008604.1:g.40624A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1153A>G MANE Select	NP_000288.1:p.Thr385Ala
ENST00000237596.7:c.1153A>G MANE Select	ENSP00000237596.2:p.Thr385Ala
NM_000297.3:c.1153A>G	NP_000288.1:p.Thr385Ala
NR_156488.1:n.1240A>G
NR_156488.2:n.1252A>G
ENST00000237596.6:c.1153A>G	ENSP00000237596.2:p.Thr385Ala
ENST00000506367.1:n.600A>G
ENST00000508588.5:c.-365A>G	ENSP00000427131.1:n.-365A>G
XM_011532028.1:c.1095-3351A>G	XP_011530330.1:n.1095-3351A>G
XM_011532028.2:c.1095-3351A>G	XP_011530330.1:n.1095-3351A>G
XM_011532029.1:c.433A>G	XP_011530331.1:p.Thr145Ala
XM_011532030.1:c.313A>G	XP_011530332.1:p.Thr105Ala
XM_011532030.2:c.313A>G	XP_011530332.1:p.Thr105Ala
XR_244632.2:n.1248A>G