Canonical Allele Identifier: CA3003971

Gene: PKD2

Linked Data

• dbSNP Id: rs750719254
• ExAC: 4:88968050 C / G
• gnomAD v2: 4-88968050-C-G
• gnomAD v4: 4-88046898-C-G
• MyVariant Identifiers: chr4:g.88968050C>G (hg19) ; chr4:g.88046898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046898C>G , CM000666.2:g.88046898C>G	GRCh38
NC_000004.11:g.88968050C>G , CM000666.1:g.88968050C>G	GRCh37
NC_000004.10:g.89187074C>G	NCBI36
NG_008604.1:g.44231C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+28C>G MANE Select	ENSP00000237596.2:n.1548+28C>G
ENST00000237596.6:c.1548+28C>G	ENSP00000237596.2:n.1548+28C>G
ENST00000508588.5:c.-199+3441C>G	ENSP00000427131.1:n.-199+3441C>G
NM_000297.3:c.1548+28C>G	NP_000288.1:n.1548+28C>G
XM_011532028.1:c.1323+28C>G	XP_011530330.1:n.1323+28C>G
XM_011532029.1:c.828+28C>G	XP_011530331.1:n.828+28C>G
XM_011532030.1:c.708+28C>G	XP_011530332.1:n.708+28C>G
XR_244632.2:n.1643+28C>G
NR_156488.1:n.1635+28C>G
XM_011532028.2:c.1323+28C>G	XP_011530330.1:n.1323+28C>G
XM_011532030.2:c.708+28C>G	XP_011530332.1:n.708+28C>G
NM_000297.4:c.1548+28C>G MANE Select	NP_000288.1:n.1548+28C>G
NR_156488.2:n.1647+28C>G