Canonical Allele Identifier: CA370693464
Community Standard Title: NM_015214.3(DDHD2):c.1617+1G>T
Gene: DDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38252288G>T , CM000670.2:g.38252288G>T GRCh38
NC_000008.10:g.38109806G>T , CM000670.1:g.38109806G>T GRCh37
NC_000008.9:g.38228963G>T NCBI36
NG_033875.1:g.25798G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015214.3:c.1617+1G>T MANE Select NP_056029.2:n.1617+1G>T
ENST00000397166.7:c.1617+1G>T MANE Select ENSP00000380352.2:n.1617+1G>T
NM_001164232.1:c.1617+1G>T NP_001157704.1:n.1617+1G>T
NM_001164232.2:c.1617+1G>T NP_001157704.1:n.1617+1G>T
NM_001362911.1:c.1617+1G>T NP_001349840.1:n.1617+1G>T
NM_001362911.2:c.1617+1G>T NP_001349840.1:n.1617+1G>T
NM_001362912.1:c.1617+1G>T NP_001349841.1:n.1617+1G>T
NM_001362912.2:c.1617+1G>T NP_001349841.1:n.1617+1G>T
NM_001362913.1:c.1527+1G>T NP_001349842.1:n.1527+1G>T
NM_001362913.2:c.1527+1G>T NP_001349842.1:n.1527+1G>T
NM_001362914.1:c.1617+1G>T NP_001349843.1:n.1617+1G>T
NM_001362914.2:c.1617+1G>T NP_001349843.1:n.1617+1G>T
NM_015214.2:c.1617+1G>T NP_056029.2:n.1617+1G>T
NR_156416.1:n.1926+1G>T
NR_156416.2:n.1832+1G>T
NR_156417.1:n.1926+1G>T
NR_156417.2:n.1832+1G>T
ENST00000397166.6:c.1617+1G>T ENSP00000380352.2:n.1617+1G>T
ENST00000517385.5:c.474+1G>T ENSP00000429017.1:n.474+1G>T
ENST00000520176.5:n.2406+1G>T
ENST00000520272.6:c.1617+1G>T ENSP00000429932.2:n.1617+1G>T
ENST00000524545.1:n.77+1G>T
ENST00000526144.1:c.122+1G>T
ENST00000528148.1:n.190+1G>T
ENST00000528504.5:n.609+1G>T
ENST00000529845.5:c.-11+1G>T ENSP00000431638.1:n.-11+1G>T
XM_005273454.1:c.1617+1G>T XP_005273511.1:n.1617+1G>T
XM_005273455.2:c.1617+1G>T XP_005273512.1:n.1617+1G>T
XM_005273456.2:c.1527+1G>T XP_005273513.1:n.1527+1G>T
XM_005273457.2:c.474+1G>T XP_005273514.1:n.474+1G>T
XM_011544455.1:c.1617+1G>T XP_011542757.1:n.1617+1G>T
XM_011544456.1:c.1617+1G>T XP_011542758.1:n.1617+1G>T
XM_011544456.2:c.1617+1G>T XP_011542758.1:n.1617+1G>T
XM_017013255.2:c.474+1G>T XP_016868744.1:n.474+1G>T
XR_001745504.2:n.1900+1G>T
XR_001745506.2:n.1832+1G>T
XR_247123.1:n.2074+1G>T
XR_949383.1:n.2142+1G>T
XR_949384.1:n.2142+1G>T
XR_949385.1:n.2142+1G>T
XR_949386.1:n.2142+1G>T
XR_949387.1:n.2142+1G>T