Canonical Allele Identifier: CA357625570

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929055A>T (hg19) ; chr4:g.88007903A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007903A>T , CM000666.2:g.88007903A>T	GRCh38
NC_000004.11:g.88929055A>T , CM000666.1:g.88929055A>T	GRCh37
NC_000004.10:g.89148079A>T	NCBI36
NG_008604.1:g.5236A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.170A>T MANE Select	ENSP00000237596.2:p.Gln57Leu
ENST00000237596.6:c.170A>T	ENSP00000237596.2:p.Gln57Leu
NM_000297.3:c.170A>T	NP_000288.1:p.Gln57Leu
XM_011532028.1:c.170A>T	XP_011530330.1:p.Gln57Leu
XR_244632.2:n.265A>T
NR_156488.1:n.257A>T
XM_011532028.2:c.170A>T	XP_011530330.1:p.Gln57Leu
NM_000297.4:c.170A>T MANE Select	NP_000288.1:p.Gln57Leu
NR_156488.2:n.269A>T