Canonical Allele Identifier: CA370923543
Community Standard Title: NM_000553.6(WRN):c.3309+2T>G
Gene: WRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31142703T>G , CM000670.2:g.31142703T>G GRCh38
NC_000008.10:g.31000219T>G , CM000670.1:g.31000219T>G GRCh37
NC_000008.9:g.31119761T>G NCBI36
NG_008870.1:g.114442T>G , LRG_524:g.114442T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000553.6:c.3309+2T>G MANE Select NP_000544.2:n.3309+2T>G
ENST00000298139.7:c.3309+2T>G MANE Select ENSP00000298139.5:n.3309+2T>G
NM_000553.4:c.3309+2T>G , LRG_524t1:c.3309+2T>G NP_000544.2:n.3309+2T>G
NM_000553.5:c.3309+2T>G NP_000544.2:n.3309+2T>G
ENST00000298139.5:c.3309+2T>G ENSP00000298139.5:n.3309+2T>G
ENST00000521620.5:n.1942+2T>G
ENST00000650667.1:c.*2923+2T>G ENSP00000498593.1:n.*2923+2T>G
XM_011544639.1:c.3228+2T>G XP_011542941.1:n.3228+2T>G
XM_011544639.3:c.3228+2T>G XP_011542941.1:n.3228+2T>G
XM_011544640.1:c.1710+2T>G XP_011542942.1:n.1710+2T>G
XM_024447265.1:c.3099+2T>G XP_024303033.1:n.3099+2T>G
XR_949470.1:n.3582+2T>G
XR_949470.3:n.3610+2T>G
XR_949471.1:n.3582+2T>G
XR_949471.3:n.3610+2T>G
XR_949472.1:n.3582+2T>G
XR_949472.3:n.3610+2T>G