Canonical Allele Identifier: CA357618352

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046642G>T , CM000666.2:g.88046642G>T	GRCh38
NC_000004.11:g.88967794G>T , CM000666.1:g.88967794G>T	GRCh37
NC_000004.10:g.89186818G>T	NCBI36
NG_008604.1:g.43975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1320G>T MANE Select	ENSP00000237596.2:p.Arg440Ser
ENST00000237596.6:c.1320G>T	ENSP00000237596.2:p.Arg440Ser
ENST00000508588.5:c.-199+3185G>T	ENSP00000427131.1:n.-199+3185G>T
NM_000297.3:c.1320G>T	NP_000288.1:p.Arg440Ser
XM_011532028.1:c.1095G>T	XP_011530330.1:p.Ala365=
XM_011532029.1:c.600G>T	XP_011530331.1:p.Arg200Ser
XM_011532030.1:c.480G>T	XP_011530332.1:p.Arg160Ser
XR_244632.2:n.1415G>T
NR_156488.1:n.1407G>T
XM_011532028.2:c.1095G>T	XP_011530330.1:p.Ala365=
XM_011532030.2:c.480G>T	XP_011530332.1:p.Arg160Ser
NM_000297.4:c.1320G>T MANE Select	NP_000288.1:p.Arg440Ser
NR_156488.2:n.1419G>T