Canonical Allele Identifier: CA357627120

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929439C>T (hg19) ; chr4:g.88008287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008287C>T , CM000666.2:g.88008287C>T	GRCh38
NC_000004.11:g.88929439C>T , CM000666.1:g.88929439C>T	GRCh37
NC_000004.10:g.89148463C>T	NCBI36
NG_008604.1:g.5620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.554C>T MANE Select	ENSP00000237596.2:p.Pro185Leu
ENST00000237596.6:c.554C>T	ENSP00000237596.2:p.Pro185Leu
ENST00000506727.1:n.56C>T
NM_000297.3:c.554C>T	NP_000288.1:p.Pro185Leu
XM_011532028.1:c.554C>T	XP_011530330.1:p.Pro185Leu
XR_244632.2:n.649C>T
NR_156488.1:n.641C>T
XM_011532028.2:c.554C>T	XP_011530330.1:p.Pro185Leu
NM_000297.4:c.554C>T MANE Select	NP_000288.1:p.Pro185Leu
NR_156488.2:n.653C>T