Canonical Allele Identifier: CA553085951

Gene: PKD2

Linked Data

• dbSNP Id: rs1246019628
• gnomAD v2: 4-88968036-C-CAATTAA
• MyVariant Identifiers: chr4:g.88968036_88968037insAATTAA (hg19) ; chr4:g.88046884_88046885insAATTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046886_88046887insTTAAAA , CM000666.2:g.88046886_88046887insTTAAAA	GRCh38
NC_000004.11:g.88968038_88968039insTTAAAA , CM000666.1:g.88968038_88968039insTTAAAA	GRCh37
NC_000004.10:g.89187062_89187063insTTAAAA	NCBI36
NG_008604.1:g.44219_44220insTTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+16_1548+17insTTAAAA MANE Select	ENSP00000237596.2:n.1548+16_1548+17insTTAAAA
ENST00000237596.6:c.1548+16_1548+17insTTAAAA	ENSP00000237596.2:n.1548+16_1548+17insTTAAAA
ENST00000508588.5:c.-199+3429_-199+3430insTTAAAA	ENSP00000427131.1:n.-199+3429_-199+3430insTTAAAA
NM_000297.3:c.1548+16_1548+17insTTAAAA	NP_000288.1:n.1548+16_1548+17insTTAAAA
XM_011532028.1:c.1323+16_1323+17insTTAAAA	XP_011530330.1:n.1323+16_1323+17insTTAAAA
XM_011532029.1:c.828+16_828+17insTTAAAA	XP_011530331.1:n.828+16_828+17insTTAAAA
XM_011532030.1:c.708+16_708+17insTTAAAA	XP_011530332.1:n.708+16_708+17insTTAAAA
XR_244632.2:n.1643+16_1643+17insTTAAAA
NR_156488.1:n.1635+16_1635+17insTTAAAA
XM_011532028.2:c.1323+16_1323+17insTTAAAA	XP_011530330.1:n.1323+16_1323+17insTTAAAA
XM_011532030.2:c.708+16_708+17insTTAAAA	XP_011530332.1:n.708+16_708+17insTTAAAA
NM_000297.4:c.1548+16_1548+17insTTAAAA MANE Select	NP_000288.1:n.1548+16_1548+17insTTAAAA
NR_156488.2:n.1647+16_1647+17insTTAAAA