Canonical Allele Identifier: CA357615714

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964492A>C (hg19) ; chr4:g.88043340A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043340A>C , CM000666.2:g.88043340A>C	GRCh38
NC_000004.11:g.88964492A>C , CM000666.1:g.88964492A>C	GRCh37
NC_000004.10:g.89183516A>C	NCBI36
NG_008604.1:g.40673A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1202A>C MANE Select	ENSP00000237596.2:p.Glu401Ala
ENST00000237596.6:c.1202A>C	ENSP00000237596.2:p.Glu401Ala
ENST00000506367.1:n.649A>C
ENST00000508588.5:c.-316A>C	ENSP00000427131.1:n.-316A>C
NM_000297.3:c.1202A>C	NP_000288.1:p.Glu401Ala
XM_011532028.1:c.1095-3302A>C	XP_011530330.1:n.1095-3302A>C
XM_011532029.1:c.482A>C	XP_011530331.1:p.Glu161Ala
XM_011532030.1:c.362A>C	XP_011530332.1:p.Glu121Ala
XR_244632.2:n.1297A>C
NR_156488.1:n.1289A>C
XM_011532028.2:c.1095-3302A>C	XP_011530330.1:n.1095-3302A>C
XM_011532030.2:c.362A>C	XP_011530332.1:p.Glu121Ala
NM_000297.4:c.1202A>C MANE Select	NP_000288.1:p.Glu401Ala
NR_156488.2:n.1301A>C