Canonical Allele Identifier: CA357615590

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964464T>G (hg19) ; chr4:g.88043312T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043312T>G , CM000666.2:g.88043312T>G	GRCh38
NC_000004.11:g.88964464T>G , CM000666.1:g.88964464T>G	GRCh37
NC_000004.10:g.89183488T>G	NCBI36
NG_008604.1:g.40645T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1174T>G MANE Select	ENSP00000237596.2:p.Tyr392Asp
ENST00000237596.6:c.1174T>G	ENSP00000237596.2:p.Tyr392Asp
ENST00000506367.1:n.621T>G
ENST00000508588.5:c.-344T>G	ENSP00000427131.1:n.-344T>G
NM_000297.3:c.1174T>G	NP_000288.1:p.Tyr392Asp
XM_011532028.1:c.1095-3330T>G	XP_011530330.1:n.1095-3330T>G
XM_011532029.1:c.454T>G	XP_011530331.1:p.Tyr152Asp
XM_011532030.1:c.334T>G	XP_011530332.1:p.Tyr112Asp
XR_244632.2:n.1269T>G
NR_156488.1:n.1261T>G
XM_011532028.2:c.1095-3330T>G	XP_011530330.1:n.1095-3330T>G
XM_011532030.2:c.334T>G	XP_011530332.1:p.Tyr112Asp
NM_000297.4:c.1174T>G MANE Select	NP_000288.1:p.Tyr392Asp
NR_156488.2:n.1273T>G