Canonical Allele Identifier: CA357632428

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959440A>C (hg19) ; chr4:g.88038288A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038288A>C , CM000666.2:g.88038288A>C	GRCh38
NC_000004.11:g.88959440A>C , CM000666.1:g.88959440A>C	GRCh37
NC_000004.10:g.89178464A>C	NCBI36
NG_008604.1:g.35621A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.881A>C MANE Select	ENSP00000237596.2:p.Lys294Thr
ENST00000237596.6:c.881A>C	ENSP00000237596.2:p.Lys294Thr
ENST00000506367.1:n.328A>C
ENST00000506727.1:n.467A>C
NM_000297.3:c.881A>C	NP_000288.1:p.Lys294Thr
XM_011532028.1:c.881A>C	XP_011530330.1:p.Lys294Thr
XM_011532029.1:c.161A>C	XP_011530331.1:p.Lys54Thr
XM_011532030.1:c.41A>C	XP_011530332.1:p.Lys14Thr
XR_244632.2:n.976A>C
NR_156488.1:n.968A>C
XM_011532028.2:c.881A>C	XP_011530330.1:p.Lys294Thr
XM_011532030.2:c.41A>C	XP_011530332.1:p.Lys14Thr
NM_000297.4:c.881A>C MANE Select	NP_000288.1:p.Lys294Thr
NR_156488.2:n.980A>C