Canonical Allele Identifier: CA357624879

Gene: PKD2

Linked Data

• gnomAD v4: 4-88007770-G-T
• MyVariant Identifiers: chr4:g.88928922G>T (hg19) ; chr4:g.88007770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007770G>T , CM000666.2:g.88007770G>T	GRCh38
NC_000004.11:g.88928922G>T , CM000666.1:g.88928922G>T	GRCh37
NC_000004.10:g.89147946G>T	NCBI36
NG_008604.1:g.5103G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.37G>T MANE Select	ENSP00000237596.2:p.Gly13Trp
ENST00000237596.6:c.37G>T	ENSP00000237596.2:p.Gly13Trp
NM_000297.3:c.37G>T	NP_000288.1:p.Gly13Trp
XM_011532028.1:c.37G>T	XP_011530330.1:p.Gly13Trp
XR_244632.2:n.132G>T
NR_156488.1:n.124G>T
XM_011532028.2:c.37G>T	XP_011530330.1:p.Gly13Trp
NM_000297.4:c.37G>T MANE Select	NP_000288.1:p.Gly13Trp
NR_156488.2:n.136G>T