Canonical Allele Identifier: CA357622864

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88056206C>T , CM000666.2:g.88056206C>T	GRCh38
NC_000004.11:g.88977358C>T , CM000666.1:g.88977358C>T	GRCh37
NC_000004.10:g.89196382C>T	NCBI36
NG_008604.1:g.53539C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1837C>T MANE Select	NP_000288.1:p.Gln613Ter
ENST00000237596.7:c.1837C>T MANE Select	ENSP00000237596.2:p.Gln613Ter
NM_000297.3:c.1837C>T	NP_000288.1:p.Gln613Ter
NR_156488.1:n.1924C>T
NR_156488.2:n.1936C>T
ENST00000237596.6:c.1837C>T	ENSP00000237596.2:p.Gln613Ter
ENST00000502363.1:c.91C>T	ENSP00000425289.1:p.Gln31Ter
ENST00000508588.5:c.91C>T	ENSP00000427131.1:p.Gln31Ter
ENST00000511337.5:n.210C>T
ENST00000512858.1:n.170C>T
XM_011532028.1:c.1612C>T	XP_011530330.1:p.Gln538Ter
XM_011532028.2:c.1612C>T	XP_011530330.1:p.Gln538Ter
XM_011532029.1:c.1117C>T	XP_011530331.1:p.Gln373Ter
XM_011532030.1:c.997C>T	XP_011530332.1:p.Gln333Ter
XM_011532030.2:c.997C>T	XP_011530332.1:p.Gln333Ter
XR_244632.2:n.1932C>T