Canonical Allele Identifier: CA357615616

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964471A>C (hg19) ; chr4:g.88043319A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043319A>C , CM000666.2:g.88043319A>C	GRCh38
NC_000004.11:g.88964471A>C , CM000666.1:g.88964471A>C	GRCh37
NC_000004.10:g.89183495A>C	NCBI36
NG_008604.1:g.40652A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1181A>C MANE Select	ENSP00000237596.2:p.Asp394Ala
ENST00000237596.6:c.1181A>C	ENSP00000237596.2:p.Asp394Ala
ENST00000506367.1:n.628A>C
ENST00000508588.5:c.-337A>C	ENSP00000427131.1:n.-337A>C
NM_000297.3:c.1181A>C	NP_000288.1:p.Asp394Ala
XM_011532028.1:c.1095-3323A>C	XP_011530330.1:n.1095-3323A>C
XM_011532029.1:c.461A>C	XP_011530331.1:p.Asp154Ala
XM_011532030.1:c.341A>C	XP_011530332.1:p.Asp114Ala
XR_244632.2:n.1276A>C
NR_156488.1:n.1268A>C
XM_011532028.2:c.1095-3323A>C	XP_011530330.1:n.1095-3323A>C
XM_011532030.2:c.341A>C	XP_011530332.1:p.Asp114Ala
NM_000297.4:c.1181A>C MANE Select	NP_000288.1:p.Asp394Ala
NR_156488.2:n.1280A>C