Canonical Allele Identifier: CA357615831

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964516T>C (hg19) ; chr4:g.88043364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043364T>C , CM000666.2:g.88043364T>C	GRCh38
NC_000004.11:g.88964516T>C , CM000666.1:g.88964516T>C	GRCh37
NC_000004.10:g.89183540T>C	NCBI36
NG_008604.1:g.40697T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1226T>C MANE Select	ENSP00000237596.2:p.Leu409Pro
ENST00000237596.6:c.1226T>C	ENSP00000237596.2:p.Leu409Pro
ENST00000506367.1:n.673T>C
ENST00000508588.5:c.-292T>C	ENSP00000427131.1:n.-292T>C
NM_000297.3:c.1226T>C	NP_000288.1:p.Leu409Pro
XM_011532028.1:c.1095-3278T>C	XP_011530330.1:n.1095-3278T>C
XM_011532029.1:c.506T>C	XP_011530331.1:p.Leu169Pro
XM_011532030.1:c.386T>C	XP_011530332.1:p.Leu129Pro
XR_244632.2:n.1321T>C
NR_156488.1:n.1313T>C
XM_011532028.2:c.1095-3278T>C	XP_011530330.1:n.1095-3278T>C
XM_011532030.2:c.386T>C	XP_011530332.1:p.Leu129Pro
NM_000297.4:c.1226T>C MANE Select	NP_000288.1:p.Leu409Pro
NR_156488.2:n.1325T>C