Canonical Allele Identifier: CA440261871

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964454A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043302A>C , CM000666.2:g.88043302A>C	GRCh38
NC_000004.11:g.88964454A>C , CM000666.1:g.88964454A>C	GRCh37
NC_000004.10:g.89183478A>C	NCBI36
NG_008604.1:g.40635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1164A>C MANE Select	ENSP00000237596.2:p.Gly388=
ENST00000237596.6:c.1164A>C	ENSP00000237596.2:p.Gly388=
ENST00000506367.1:n.611A>C
ENST00000508588.5:c.-354A>C	ENSP00000427131.1:n.-354A>C
NM_000297.3:c.1164A>C	NP_000288.1:p.Gly388=
XM_011532028.1:c.1095-3340A>C	XP_011530330.1:n.1095-3340A>C
XM_011532029.1:c.444A>C	XP_011530331.1:p.Gly148=
XM_011532030.1:c.324A>C	XP_011530332.1:p.Gly108=
XR_244632.2:n.1259A>C
NR_156488.1:n.1251A>C
XM_011532028.2:c.1095-3340A>C	XP_011530330.1:n.1095-3340A>C
XM_011532030.2:c.324A>C	XP_011530332.1:p.Gly108=
NM_000297.4:c.1164A>C MANE Select	NP_000288.1:p.Gly388=
NR_156488.2:n.1263A>C