Canonical Allele Identifier: CA357632666

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959479G>T (hg19) ; chr4:g.88038327G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038327G>T , CM000666.2:g.88038327G>T	GRCh38
NC_000004.11:g.88959479G>T , CM000666.1:g.88959479G>T	GRCh37
NC_000004.10:g.89178503G>T	NCBI36
NG_008604.1:g.35660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.920G>T MANE Select	ENSP00000237596.2:p.Ser307Ile
ENST00000237596.6:c.920G>T	ENSP00000237596.2:p.Ser307Ile
ENST00000506367.1:n.367G>T
ENST00000506727.1:n.506G>T
NM_000297.3:c.920G>T	NP_000288.1:p.Ser307Ile
XM_011532028.1:c.920G>T	XP_011530330.1:p.Ser307Ile
XM_011532029.1:c.200G>T	XP_011530331.1:p.Ser67Ile
XM_011532030.1:c.80G>T	XP_011530332.1:p.Ser27Ile
XR_244632.2:n.1015G>T
NR_156488.1:n.1007G>T
XM_011532028.2:c.920G>T	XP_011530330.1:p.Ser307Ile
XM_011532030.2:c.80G>T	XP_011530332.1:p.Ser27Ile
NM_000297.4:c.920G>T MANE Select	NP_000288.1:p.Ser307Ile
NR_156488.2:n.1019G>T