Canonical Allele Identifier: CA440262127

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964514C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043362C>T , CM000666.2:g.88043362C>T	GRCh38
NC_000004.11:g.88964514C>T , CM000666.1:g.88964514C>T	GRCh37
NC_000004.10:g.89183538C>T	NCBI36
NG_008604.1:g.40695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1224C>T MANE Select	ENSP00000237596.2:p.Ser408=
ENST00000237596.6:c.1224C>T	ENSP00000237596.2:p.Ser408=
ENST00000506367.1:n.671C>T
ENST00000508588.5:c.-294C>T	ENSP00000427131.1:n.-294C>T
NM_000297.3:c.1224C>T	NP_000288.1:p.Ser408=
XM_011532028.1:c.1095-3280C>T	XP_011530330.1:n.1095-3280C>T
XM_011532029.1:c.504C>T	XP_011530331.1:p.Ser168=
XM_011532030.1:c.384C>T	XP_011530332.1:p.Ser128=
XR_244632.2:n.1319C>T
NR_156488.1:n.1311C>T
XM_011532028.2:c.1095-3280C>T	XP_011530330.1:n.1095-3280C>T
XM_011532030.2:c.384C>T	XP_011530332.1:p.Ser128=
NM_000297.4:c.1224C>T MANE Select	NP_000288.1:p.Ser408=
NR_156488.2:n.1323C>T