Canonical Allele Identifier: CA357618959

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967876A>C (hg19) ; chr4:g.88046724A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046724A>C , CM000666.2:g.88046724A>C	GRCh38
NC_000004.11:g.88967876A>C , CM000666.1:g.88967876A>C	GRCh37
NC_000004.10:g.89186900A>C	NCBI36
NG_008604.1:g.44057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1402A>C MANE Select	ENSP00000237596.2:p.Thr468Pro
ENST00000237596.6:c.1402A>C	ENSP00000237596.2:p.Thr468Pro
ENST00000508588.5:c.-199+3267A>C	ENSP00000427131.1:n.-199+3267A>C
NM_000297.3:c.1402A>C	NP_000288.1:p.Thr468Pro
XM_011532028.1:c.1177A>C	XP_011530330.1:p.Thr393Pro
XM_011532029.1:c.682A>C	XP_011530331.1:p.Thr228Pro
XM_011532030.1:c.562A>C	XP_011530332.1:p.Thr188Pro
XR_244632.2:n.1497A>C
NR_156488.1:n.1489A>C
XM_011532028.2:c.1177A>C	XP_011530330.1:p.Thr393Pro
XM_011532030.2:c.562A>C	XP_011530332.1:p.Thr188Pro
NM_000297.4:c.1402A>C MANE Select	NP_000288.1:p.Thr468Pro
NR_156488.2:n.1501A>C