Canonical Allele Identifier: CA357632443

Gene: PKD2

Linked Data

• dbSNP Id: rs1727415323
• gnomAD v4: 4-88038290-A-C
• MyVariant Identifiers: chr4:g.88959442A>C (hg19) ; chr4:g.88038290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038290A>C , CM000666.2:g.88038290A>C	GRCh38
NC_000004.11:g.88959442A>C , CM000666.1:g.88959442A>C	GRCh37
NC_000004.10:g.89178466A>C	NCBI36
NG_008604.1:g.35623A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.883A>C MANE Select	ENSP00000237596.2:p.Met295Leu
ENST00000237596.6:c.883A>C	ENSP00000237596.2:p.Met295Leu
ENST00000506367.1:n.330A>C
ENST00000506727.1:n.469A>C
NM_000297.3:c.883A>C	NP_000288.1:p.Met295Leu
XM_011532028.1:c.883A>C	XP_011530330.1:p.Met295Leu
XM_011532029.1:c.163A>C	XP_011530331.1:p.Met55Leu
XM_011532030.1:c.43A>C	XP_011530332.1:p.Met15Leu
XR_244632.2:n.978A>C
NR_156488.1:n.970A>C
XM_011532028.2:c.883A>C	XP_011530330.1:p.Met295Leu
XM_011532030.2:c.43A>C	XP_011530332.1:p.Met15Leu
NM_000297.4:c.883A>C MANE Select	NP_000288.1:p.Met295Leu
NR_156488.2:n.982A>C