Canonical Allele Identifier: CA370908119
Community Standard Title: NM_000553.6(WRN):c.1982-2A>G
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31100847A>G , CM000670.2:g.31100847A>G GRCh38
NC_000008.10:g.30958363A>G , CM000670.1:g.30958363A>G GRCh37
NC_000008.9:g.31077905A>G NCBI36
NG_008870.1:g.72586A>G , LRG_524:g.72586A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.1982-2A>G MANE Select NP_000544.2:n.1982-2A>G
ENST00000298139.7:c.1982-2A>G MANE Select ENSP00000298139.5:n.1982-2A>G
NM_000553.4:c.1982-2A>G , LRG_524t1:c.1982-2A>G NP_000544.2:n.1982-2A>G
NM_000553.5:c.1982-2A>G NP_000544.2:n.1982-2A>G
ENST00000298139.5:c.1982-2A>G ENSP00000298139.5:n.1982-2A>G
ENST00000521620.5:n.615-2A>G
ENST00000650667.1:c.*1596-2A>G ENSP00000498593.1:n.*1596-2A>G
XM_011544639.1:c.1901-2A>G XP_011542941.1:n.1901-2A>G
XM_011544639.3:c.1901-2A>G XP_011542941.1:n.1901-2A>G
XM_011544640.1:c.383-2A>G XP_011542942.1:n.383-2A>G
XM_024447265.1:c.1772-2A>G XP_024303033.1:n.1772-2A>G
XR_949470.1:n.2255-2A>G
XR_949470.3:n.2283-2A>G
XR_949471.1:n.2255-2A>G
XR_949471.3:n.2283-2A>G
XR_949472.1:n.2255-2A>G
XR_949472.3:n.2283-2A>G