Canonical Allele Identifier: CA357631190

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88036259C>G , CM000666.2:g.88036259C>G	GRCh38
NC_000004.11:g.88957411C>G , CM000666.1:g.88957411C>G	GRCh37
NC_000004.10:g.89176435C>G	NCBI36
NG_008604.1:g.33592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.749C>G MANE Select	ENSP00000237596.2:p.Thr250Ser
ENST00000237596.6:c.749C>G	ENSP00000237596.2:p.Thr250Ser
ENST00000506367.1:n.196C>G
ENST00000506727.1:n.335C>G
NM_000297.3:c.749C>G	NP_000288.1:p.Thr250Ser
XM_011532028.1:c.749C>G	XP_011530330.1:p.Thr250Ser
XM_011532029.1:c.29C>G	XP_011530331.1:p.Thr10Ser
XR_244632.2:n.844C>G
NR_156488.1:n.836C>G
XM_011532028.2:c.749C>G	XP_011530330.1:p.Thr250Ser
XM_011532030.2:c.-219C>G	XP_011530332.1:n.-219C>G
NM_000297.4:c.749C>G MANE Select	NP_000288.1:p.Thr250Ser
NR_156488.2:n.848C>G