Canonical Allele Identifier: CA357627251

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929482T>A (hg19) ; chr4:g.88008330T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008330T>A , CM000666.2:g.88008330T>A	GRCh38
NC_000004.11:g.88929482T>A , CM000666.1:g.88929482T>A	GRCh37
NC_000004.10:g.89148506T>A	NCBI36
NG_008604.1:g.5663T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+2T>A MANE Select	ENSP00000237596.2:n.595+2T>A
ENST00000237596.6:c.595+2T>A	ENSP00000237596.2:n.595+2T>A
ENST00000506727.1:n.97+2T>A
NM_000297.3:c.595+2T>A	NP_000288.1:n.595+2T>A
XM_011532028.1:c.595+2T>A	XP_011530330.1:n.595+2T>A
XR_244632.2:n.690+2T>A
NR_156488.1:n.682+2T>A
XM_011532028.2:c.595+2T>A	XP_011530330.1:n.595+2T>A
NM_000297.4:c.595+2T>A MANE Select	NP_000288.1:n.595+2T>A
NR_156488.2:n.694+2T>A