Canonical Allele Identifier: CA357624747

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986641T>C (hg19) ; chr4:g.88065489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065489T>C , CM000666.2:g.88065489T>C	GRCh38
NC_000004.11:g.88986641T>C , CM000666.1:g.88986641T>C	GRCh37
NC_000004.10:g.89205665T>C	NCBI36
NG_008604.1:g.62822T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2234T>C MANE Select	ENSP00000237596.2:p.Leu745Pro
ENST00000237596.6:c.2234T>C	ENSP00000237596.2:p.Leu745Pro
ENST00000502363.1:c.488T>C	ENSP00000425289.1:p.Leu163Pro
ENST00000508588.5:c.488T>C	ENSP00000427131.1:p.Leu163Pro
ENST00000511337.5:n.486T>C
ENST00000512858.1:n.446T>C
NM_000297.3:c.2234T>C	NP_000288.1:p.Leu745Pro
XM_011532028.1:c.2009T>C	XP_011530330.1:p.Leu670Pro
XM_011532029.1:c.1514T>C	XP_011530331.1:p.Leu505Pro
XM_011532030.1:c.1394T>C	XP_011530332.1:p.Leu465Pro
NR_156488.1:n.2200T>C
XM_011532028.2:c.2009T>C	XP_011530330.1:p.Leu670Pro
XM_011532030.2:c.1394T>C	XP_011530332.1:p.Leu465Pro
NM_000297.4:c.2234T>C MANE Select	NP_000288.1:p.Leu745Pro
NR_156488.2:n.2212T>C