Canonical Allele Identifier: CA357619192

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046750-T-G
• MyVariant Identifiers: chr4:g.88967902T>G (hg19) ; chr4:g.88046750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046750T>G , CM000666.2:g.88046750T>G	GRCh38
NC_000004.11:g.88967902T>G , CM000666.1:g.88967902T>G	GRCh37
NC_000004.10:g.89186926T>G	NCBI36
NG_008604.1:g.44083T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1428T>G MANE Select	ENSP00000237596.2:p.Cys476Trp
ENST00000237596.6:c.1428T>G	ENSP00000237596.2:p.Cys476Trp
ENST00000508588.5:c.-199+3293T>G	ENSP00000427131.1:n.-199+3293T>G
NM_000297.3:c.1428T>G	NP_000288.1:p.Cys476Trp
XM_011532028.1:c.1203T>G	XP_011530330.1:p.Cys401Trp
XM_011532029.1:c.708T>G	XP_011530331.1:p.Cys236Trp
XM_011532030.1:c.588T>G	XP_011530332.1:p.Cys196Trp
XR_244632.2:n.1523T>G
NR_156488.1:n.1515T>G
XM_011532028.2:c.1203T>G	XP_011530330.1:p.Cys401Trp
XM_011532030.2:c.588T>G	XP_011530332.1:p.Cys196Trp
NM_000297.4:c.1428T>G MANE Select	NP_000288.1:p.Cys476Trp
NR_156488.2:n.1527T>G