Canonical Allele Identifier: CA357615723

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964494A>T (hg19) ; chr4:g.88043342A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043342A>T , CM000666.2:g.88043342A>T	GRCh38
NC_000004.11:g.88964494A>T , CM000666.1:g.88964494A>T	GRCh37
NC_000004.10:g.89183518A>T	NCBI36
NG_008604.1:g.40675A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1204A>T MANE Select	ENSP00000237596.2:p.Thr402Ser
ENST00000237596.6:c.1204A>T	ENSP00000237596.2:p.Thr402Ser
ENST00000506367.1:n.651A>T
ENST00000508588.5:c.-314A>T	ENSP00000427131.1:n.-314A>T
NM_000297.3:c.1204A>T	NP_000288.1:p.Thr402Ser
XM_011532028.1:c.1095-3300A>T	XP_011530330.1:n.1095-3300A>T
XM_011532029.1:c.484A>T	XP_011530331.1:p.Thr162Ser
XM_011532030.1:c.364A>T	XP_011530332.1:p.Thr122Ser
XR_244632.2:n.1299A>T
NR_156488.1:n.1291A>T
XM_011532028.2:c.1095-3300A>T	XP_011530330.1:n.1095-3300A>T
XM_011532030.2:c.364A>T	XP_011530332.1:p.Thr122Ser
NM_000297.4:c.1204A>T MANE Select	NP_000288.1:p.Thr402Ser
NR_156488.2:n.1303A>T