Canonical Allele Identifier: CA357615743

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964497G>T (hg19) ; chr4:g.88043345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043345G>T , CM000666.2:g.88043345G>T	GRCh38
NC_000004.11:g.88964497G>T , CM000666.1:g.88964497G>T	GRCh37
NC_000004.10:g.89183521G>T	NCBI36
NG_008604.1:g.40678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1207G>T MANE Select	ENSP00000237596.2:p.Ala403Ser
ENST00000237596.6:c.1207G>T	ENSP00000237596.2:p.Ala403Ser
ENST00000506367.1:n.654G>T
ENST00000508588.5:c.-311G>T	ENSP00000427131.1:n.-311G>T
NM_000297.3:c.1207G>T	NP_000288.1:p.Ala403Ser
XM_011532028.1:c.1095-3297G>T	XP_011530330.1:n.1095-3297G>T
XM_011532029.1:c.487G>T	XP_011530331.1:p.Ala163Ser
XM_011532030.1:c.367G>T	XP_011530332.1:p.Ala123Ser
XR_244632.2:n.1302G>T
NR_156488.1:n.1294G>T
XM_011532028.2:c.1095-3297G>T	XP_011530330.1:n.1095-3297G>T
XM_011532030.2:c.367G>T	XP_011530332.1:p.Ala123Ser
NM_000297.4:c.1207G>T MANE Select	NP_000288.1:p.Ala403Ser
NR_156488.2:n.1306G>T