Canonical Allele Identifier: CA357633286

Gene: PKD2

Linked Data

• dbSNP Id: rs1458310627
• gnomAD v2: 4-88959644-A-G
• gnomAD v4: 4-88038492-A-G
• MyVariant Identifiers: chr4:g.88959644A>G (hg19) ; chr4:g.88038492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038492A>G , CM000666.2:g.88038492A>G	GRCh38
NC_000004.11:g.88959644A>G , CM000666.1:g.88959644A>G	GRCh37
NC_000004.10:g.89178668A>G	NCBI36
NG_008604.1:g.35825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1085A>G MANE Select	ENSP00000237596.2:p.Asn362Ser
ENST00000237596.6:c.1085A>G	ENSP00000237596.2:p.Asn362Ser
ENST00000506367.1:n.532A>G
NM_000297.3:c.1085A>G	NP_000288.1:p.Asn362Ser
XM_011532028.1:c.1085A>G	XP_011530330.1:p.Asn362Ser
XM_011532029.1:c.365A>G	XP_011530331.1:p.Asn122Ser
XM_011532030.1:c.245A>G	XP_011530332.1:p.Asn82Ser
XR_244632.2:n.1180A>G
NR_156488.1:n.1172A>G
XM_011532028.2:c.1085A>G	XP_011530330.1:p.Asn362Ser
XM_011532030.2:c.245A>G	XP_011530332.1:p.Asn82Ser
NM_000297.4:c.1085A>G MANE Select	NP_000288.1:p.Asn362Ser
NR_156488.2:n.1184A>G