Canonical Allele Identifier: CA3003733

Gene: PKD2

Linked Data

• ClinVar Variation Id: 440151
• ClinVar RCV Id: RCV000507327 ; RCV001292346 ; RCV002056911 ; RCV001155351 ; RCV001561763
• dbSNP Id: rs559555727
• ExAC: 4:88929495 C / T
• gnomAD v2: 4-88929495-C-T
• gnomAD v3: 4-88008343-C-T
• gnomAD v4: 4-88008343-C-T
• MyVariant Identifiers: chr4:g.88929495C>T (hg19) ; chr4:g.88008343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008343C>T , CM000666.2:g.88008343C>T	GRCh38
NC_000004.11:g.88929495C>T , CM000666.1:g.88929495C>T	GRCh37
NC_000004.10:g.89148519C>T	NCBI36
NG_008604.1:g.5676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+15C>T MANE Select	ENSP00000237596.2:n.595+15C>T
ENST00000237596.6:c.595+15C>T	ENSP00000237596.2:n.595+15C>T
ENST00000506727.1:n.97+15C>T
NM_000297.3:c.595+15C>T	NP_000288.1:n.595+15C>T
XM_011532028.1:c.595+15C>T	XP_011530330.1:n.595+15C>T
XR_244632.2:n.690+15C>T
NR_156488.1:n.682+15C>T
XM_011532028.2:c.595+15C>T	XP_011530330.1:n.595+15C>T
NM_000297.4:c.595+15C>T MANE Select	NP_000288.1:n.595+15C>T
NR_156488.2:n.694+15C>T