Canonical Allele Identifier: CA357619560

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967957A>C (hg19) ; chr4:g.88046805A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046805A>C , CM000666.2:g.88046805A>C	GRCh38
NC_000004.11:g.88967957A>C , CM000666.1:g.88967957A>C	GRCh37
NC_000004.10:g.89186981A>C	NCBI36
NG_008604.1:g.44138A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1483A>C MANE Select	ENSP00000237596.2:p.Ile495Leu
ENST00000237596.6:c.1483A>C	ENSP00000237596.2:p.Ile495Leu
ENST00000508588.5:c.-199+3348A>C	ENSP00000427131.1:n.-199+3348A>C
NM_000297.3:c.1483A>C	NP_000288.1:p.Ile495Leu
XM_011532028.1:c.1258A>C	XP_011530330.1:p.Ile420Leu
XM_011532029.1:c.763A>C	XP_011530331.1:p.Ile255Leu
XM_011532030.1:c.643A>C	XP_011530332.1:p.Ile215Leu
XR_244632.2:n.1578A>C
NR_156488.1:n.1570A>C
XM_011532028.2:c.1258A>C	XP_011530330.1:p.Ile420Leu
XM_011532030.2:c.643A>C	XP_011530332.1:p.Ile215Leu
NM_000297.4:c.1483A>C MANE Select	NP_000288.1:p.Ile495Leu
NR_156488.2:n.1582A>C