Canonical Allele Identifier: CA357626684

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929332C>G (hg19) ; chr4:g.88008180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008180C>G , CM000666.2:g.88008180C>G	GRCh38
NC_000004.11:g.88929332C>G , CM000666.1:g.88929332C>G	GRCh37
NC_000004.10:g.89148356C>G	NCBI36
NG_008604.1:g.5513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.447C>G MANE Select	ENSP00000237596.2:p.His149Gln
ENST00000237596.6:c.447C>G	ENSP00000237596.2:p.His149Gln
NM_000297.3:c.447C>G	NP_000288.1:p.His149Gln
XM_011532028.1:c.447C>G	XP_011530330.1:p.His149Gln
XR_244632.2:n.542C>G
NR_156488.1:n.534C>G
XM_011532028.2:c.447C>G	XP_011530330.1:p.His149Gln
NM_000297.4:c.447C>G MANE Select	NP_000288.1:p.His149Gln
NR_156488.2:n.546C>G