Canonical Allele Identifier: CA357619360

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967927T>C (hg19) ; chr4:g.88046775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046775T>C , CM000666.2:g.88046775T>C	GRCh38
NC_000004.11:g.88967927T>C , CM000666.1:g.88967927T>C	GRCh37
NC_000004.10:g.89186951T>C	NCBI36
NG_008604.1:g.44108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1453T>C MANE Select	ENSP00000237596.2:p.Phe485Leu
ENST00000237596.6:c.1453T>C	ENSP00000237596.2:p.Phe485Leu
ENST00000508588.5:c.-199+3318T>C	ENSP00000427131.1:n.-199+3318T>C
NM_000297.3:c.1453T>C	NP_000288.1:p.Phe485Leu
XM_011532028.1:c.1228T>C	XP_011530330.1:p.Phe410Leu
XM_011532029.1:c.733T>C	XP_011530331.1:p.Phe245Leu
XM_011532030.1:c.613T>C	XP_011530332.1:p.Phe205Leu
XR_244632.2:n.1548T>C
NR_156488.1:n.1540T>C
XM_011532028.2:c.1228T>C	XP_011530330.1:p.Phe410Leu
XM_011532030.2:c.613T>C	XP_011530332.1:p.Phe205Leu
NM_000297.4:c.1453T>C MANE Select	NP_000288.1:p.Phe485Leu
NR_156488.2:n.1552T>C