Canonical Allele Identifier: CA357632624

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959469G>T (hg19) ; chr4:g.88038317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038317G>T , CM000666.2:g.88038317G>T	GRCh38
NC_000004.11:g.88959469G>T , CM000666.1:g.88959469G>T	GRCh37
NC_000004.10:g.89178493G>T	NCBI36
NG_008604.1:g.35650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.910G>T MANE Select	ENSP00000237596.2:p.Asp304Tyr
ENST00000237596.6:c.910G>T	ENSP00000237596.2:p.Asp304Tyr
ENST00000506367.1:n.357G>T
ENST00000506727.1:n.496G>T
NM_000297.3:c.910G>T	NP_000288.1:p.Asp304Tyr
XM_011532028.1:c.910G>T	XP_011530330.1:p.Asp304Tyr
XM_011532029.1:c.190G>T	XP_011530331.1:p.Asp64Tyr
XM_011532030.1:c.70G>T	XP_011530332.1:p.Asp24Tyr
XR_244632.2:n.1005G>T
NR_156488.1:n.997G>T
XM_011532028.2:c.910G>T	XP_011530330.1:p.Asp304Tyr
XM_011532030.2:c.70G>T	XP_011530332.1:p.Asp24Tyr
NM_000297.4:c.910G>T MANE Select	NP_000288.1:p.Asp304Tyr
NR_156488.2:n.1009G>T