Canonical Allele Identifier: CA8311702
Community Standard Title: NM_002663.5(PLD2):c.1583-6C>T
Gene: PLD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4816931C>T , CM000679.2:g.4816931C>T GRCh38
NC_000017.10:g.4720226C>T , CM000679.1:g.4720226C>T GRCh37
NC_000017.9:g.4667192C>T NCBI36
NG_029608.1:g.14831C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002663.5:c.1583-6C>T MANE Select NP_002654.3:n.1583-6C>T
ENST00000263088.11:c.1583-6C>T MANE Select ENSP00000263088.5:n.1583-6C>T
NM_001243108.1:c.1583-6C>T NP_001230037.1:n.1583-6C>T
NM_001243108.2:c.1583-6C>T NP_001230037.1:n.1583-6C>T
NM_002663.4:c.1583-6C>T NP_002654.3:n.1583-6C>T
ENST00000263088.10:c.1583-6C>T ENSP00000263088.5:n.1583-6C>T
ENST00000572199.1:n.224C>T
ENST00000572940.5:c.1583-6C>T ENSP00000459571.1:n.1583-6C>T
ENST00000573258.1:n.160-6C>T
ENST00000575246.6:c.*1231-6C>T ENSP00000459304.1:n.*1231-6C>T
XM_005256695.2:c.1583-6C>T XP_005256752.1:n.1583-6C>T
XM_005256696.2:c.428-6C>T XP_005256753.1:n.428-6C>T
XM_011523941.1:c.1583-145C>T XP_011522243.1:n.1583-145C>T
XM_017024764.2:c.428-6C>T XP_016880253.1:n.428-6C>T
XR_001752533.2:n.1645-6C>T
XR_001752534.2:n.1645-145C>T
XR_001752535.2:n.1645-145C>T
XR_001752536.2:n.1723-6C>T
XR_001752537.2:n.1723-6C>T
XR_002958023.1:n.1645-145C>T
XR_002958024.1:n.1645-145C>T