Canonical Allele Identifier: CA357615314
Community Standard Title: NM_000297.4(PKD2):c.1095-2A>T
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88043231A>T , CM000666.2:g.88043231A>T GRCh38
NC_000004.11:g.88964383A>T , CM000666.1:g.88964383A>T GRCh37
NC_000004.10:g.89183407A>T NCBI36
NG_008604.1:g.40564A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000297.4:c.1095-2A>T MANE Select NP_000288.1:n.1095-2A>T
ENST00000237596.7:c.1095-2A>T MANE Select ENSP00000237596.2:n.1095-2A>T
NM_000297.3:c.1095-2A>T NP_000288.1:n.1095-2A>T
NR_156488.1:n.1182-2A>T
NR_156488.2:n.1194-2A>T
ENST00000237596.6:c.1095-2A>T ENSP00000237596.2:n.1095-2A>T
ENST00000506367.1:n.542-2A>T
XM_011532028.1:c.1095-3411A>T XP_011530330.1:n.1095-3411A>T
XM_011532028.2:c.1095-3411A>T XP_011530330.1:n.1095-3411A>T
XM_011532029.1:c.375-2A>T XP_011530331.1:n.375-2A>T
XM_011532030.1:c.255-2A>T XP_011530332.1:n.255-2A>T
XM_011532030.2:c.255-2A>T XP_011530332.1:n.255-2A>T
XR_244632.2:n.1190-2A>T