Canonical Allele Identifier: CA440262080

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964502A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043350A>C , CM000666.2:g.88043350A>C	GRCh38
NC_000004.11:g.88964502A>C , CM000666.1:g.88964502A>C	GRCh37
NC_000004.10:g.89183526A>C	NCBI36
NG_008604.1:g.40683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1212A>C MANE Select	ENSP00000237596.2:p.Ala404=
ENST00000237596.6:c.1212A>C	ENSP00000237596.2:p.Ala404=
ENST00000506367.1:n.659A>C
ENST00000508588.5:c.-306A>C	ENSP00000427131.1:n.-306A>C
NM_000297.3:c.1212A>C	NP_000288.1:p.Ala404=
XM_011532028.1:c.1095-3292A>C	XP_011530330.1:n.1095-3292A>C
XM_011532029.1:c.492A>C	XP_011530331.1:p.Ala164=
XM_011532030.1:c.372A>C	XP_011530332.1:p.Ala124=
XR_244632.2:n.1307A>C
NR_156488.1:n.1299A>C
XM_011532028.2:c.1095-3292A>C	XP_011530330.1:n.1095-3292A>C
XM_011532030.2:c.372A>C	XP_011530332.1:p.Ala124=
NM_000297.4:c.1212A>C MANE Select	NP_000288.1:p.Ala404=
NR_156488.2:n.1311A>C