Canonical Allele Identifier: CA357615459

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964417G>C (hg19) ; chr4:g.88043265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043265G>C , CM000666.2:g.88043265G>C	GRCh38
NC_000004.11:g.88964417G>C , CM000666.1:g.88964417G>C	GRCh37
NC_000004.10:g.89183441G>C	NCBI36
NG_008604.1:g.40598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1127G>C MANE Select	ENSP00000237596.2:p.Gly376Ala
ENST00000237596.6:c.1127G>C	ENSP00000237596.2:p.Gly376Ala
ENST00000506367.1:n.574G>C
ENST00000508588.5:c.-391G>C	ENSP00000427131.1:n.-391G>C
NM_000297.3:c.1127G>C	NP_000288.1:p.Gly376Ala
XM_011532028.1:c.1095-3377G>C	XP_011530330.1:n.1095-3377G>C
XM_011532029.1:c.407G>C	XP_011530331.1:p.Gly136Ala
XM_011532030.1:c.287G>C	XP_011530332.1:p.Gly96Ala
XR_244632.2:n.1222G>C
NR_156488.1:n.1214G>C
XM_011532028.2:c.1095-3377G>C	XP_011530330.1:n.1095-3377G>C
XM_011532030.2:c.287G>C	XP_011530332.1:p.Gly96Ala
NM_000297.4:c.1127G>C MANE Select	NP_000288.1:p.Gly376Ala
NR_156488.2:n.1226G>C