Canonical Allele Identifier: CA3004241

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88067938T>C , CM000666.2:g.88067938T>C	GRCh38
NC_000004.11:g.88989090T>C , CM000666.1:g.88989090T>C	GRCh37
NC_000004.10:g.89208114T>C	NCBI36
NG_008604.1:g.65271T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2399T>C MANE Select	NP_000288.1:p.Met800Thr
ENST00000237596.7:c.2399T>C MANE Select	ENSP00000237596.2:p.Met800Thr
NM_000297.3:c.2399T>C	NP_000288.1:p.Met800Thr
NR_156488.1:n.2365T>C
NR_156488.2:n.2377T>C
ENST00000237596.6:c.2399T>C	ENSP00000237596.2:p.Met800Thr
ENST00000502363.1:c.653T>C	ENSP00000425289.1:p.Met218Thr
ENST00000508588.5:c.653T>C	ENSP00000427131.1:p.Met218Thr
ENST00000511337.5:n.651T>C
ENST00000512858.1:n.877T>C
XM_011532028.1:c.2174T>C	XP_011530330.1:p.Met725Thr
XM_011532028.2:c.2174T>C	XP_011530330.1:p.Met725Thr
XM_011532029.1:c.1679T>C	XP_011530331.1:p.Met560Thr
XM_011532030.1:c.1559T>C	XP_011530332.1:p.Met520Thr
XM_011532030.2:c.1559T>C	XP_011530332.1:p.Met520Thr