Canonical Allele Identifier: CA357625738

Gene: PKD2

Linked Data

• gnomAD v4: 4-88007945-C-T
• MyVariant Identifiers: chr4:g.88929097C>T (hg19) ; chr4:g.88007945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007945C>T , CM000666.2:g.88007945C>T	GRCh38
NC_000004.11:g.88929097C>T , CM000666.1:g.88929097C>T	GRCh37
NC_000004.10:g.89148121C>T	NCBI36
NG_008604.1:g.5278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.212C>T MANE Select	ENSP00000237596.2:p.Ala71Val
ENST00000237596.6:c.212C>T	ENSP00000237596.2:p.Ala71Val
NM_000297.3:c.212C>T	NP_000288.1:p.Ala71Val
XM_011532028.1:c.212C>T	XP_011530330.1:p.Ala71Val
XR_244632.2:n.307C>T
NR_156488.1:n.299C>T
XM_011532028.2:c.212C>T	XP_011530330.1:p.Ala71Val
NM_000297.4:c.212C>T MANE Select	NP_000288.1:p.Ala71Val
NR_156488.2:n.311C>T