Canonical Allele Identifier: CA370918282
Community Standard Title: NM_000553.6(WRN):c.725-2A>G
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31076171A>G , CM000670.2:g.31076171A>G GRCh38
NC_000008.10:g.30933687A>G , CM000670.1:g.30933687A>G GRCh37
NC_000008.9:g.31053229A>G NCBI36
NG_008870.1:g.47910A>G , LRG_524:g.47910A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.725-2A>G MANE Select NP_000544.2:n.725-2A>G
ENST00000298139.7:c.725-2A>G MANE Select ENSP00000298139.5:n.725-2A>G
NM_000553.4:c.725-2A>G , LRG_524t1:c.725-2A>G NP_000544.2:n.725-2A>G
NM_000553.5:c.725-2A>G NP_000544.2:n.725-2A>G
ENST00000298139.5:c.725-2A>G ENSP00000298139.5:n.725-2A>G
ENST00000650667.1:c.*339-2A>G ENSP00000498593.1:n.*339-2A>G
ENST00000651642.1:c.20-2A>G ENSP00000498779.1:n.20-2A>G
XM_011544639.1:c.725-2A>G XP_011542941.1:n.725-2A>G
XM_011544639.3:c.725-2A>G XP_011542941.1:n.725-2A>G
XM_024447265.1:c.515-2A>G XP_024303033.1:n.515-2A>G
XR_949470.1:n.998-2A>G
XR_949470.3:n.1026-2A>G
XR_949471.1:n.998-2A>G
XR_949471.3:n.1026-2A>G
XR_949472.1:n.998-2A>G
XR_949472.3:n.1026-2A>G