Canonical Allele Identifier: CA5700667
Community Standard Title: NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys)
Gene: VWA2 HGNC NCBI
AFAP1L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.114286277C>T , CM000672.2:g.114286277C>T GRCh38
NC_000010.10:g.116046036C>T , CM000672.1:g.116046036C>T GRCh37
NC_000010.9:g.116036026C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001272046.2:c.1336C>T (VWA2) MANE Select NP_001258975.1:p.Arg446Cys
ENST00000392982.8:c.1336C>T (VWA2) MANE Select ENSP00000376708.3:p.Arg446Cys
NM_001272046.1:c.1336C>T (VWA2) NP_001258975.1:p.Arg446Cys
NM_001320804.1:c.1336C>T (VWA2) NP_001307733.1:p.Arg446Cys
ENST00000298715.8:n.1586C>T (VWA2)
ENST00000392982.7:c.1336C>T (VWA2) ENSP00000376708.3:p.Arg446Cys
ENST00000603594.2:c.424C>T (VWA2) ENSP00000473752.2:p.Arg142Cys
XM_005270233.3:c.2485-4506G>A (AFAP1L2) XP_005270290.1:n.2485-4506G>A
XM_005270233.4:c.2485-4506G>A (AFAP1L2) XP_005270290.1:n.2485-4506G>A
XM_005270237.3:c.2431-4506G>A (AFAP1L2) XP_005270294.1:n.2431-4506G>A
XM_005270237.5:c.2431-4506G>A (AFAP1L2) XP_005270294.1:n.2431-4506G>A
XM_005270241.3:c.2263-4506G>A (AFAP1L2) XP_005270298.1:n.2263-4506G>A
XM_005270241.4:c.2263-4506G>A (AFAP1L2) XP_005270298.1:n.2263-4506G>A
XM_005270242.3:c.1915-4506G>A (AFAP1L2) XP_005270299.1:n.1915-4506G>A
XM_005270242.4:c.1915-4506G>A (AFAP1L2) XP_005270299.1:n.1915-4506G>A
XM_011539754.1:c.1345C>T (VWA2) XP_011538056.1:p.Arg449Cys
XM_011539754.2:c.1345C>T (VWA2) XP_011538056.1:p.Arg449Cys
XM_011539755.1:c.1336C>T (VWA2) XP_011538057.1:p.Arg446Cys
XM_011539756.1:c.1336C>T (VWA2) XP_011538058.1:p.Arg446Cys
XM_011539757.1:c.1336C>T (VWA2) XP_011538059.1:p.Arg446Cys
XM_011539758.1:c.1327C>T (VWA2) XP_011538060.1:p.Arg443Cys
XM_011539759.1:c.1096C>T (VWA2) XP_011538061.1:p.Arg366Cys
XM_011539760.1:c.1105C>T (VWA2) XP_011538062.1:p.Arg369Cys
XM_011539761.1:c.1345C>T (VWA2) XP_011538063.1:p.Arg449Cys
XM_011539762.1:c.424C>T (VWA2) XP_011538064.1:p.Arg142Cys
XM_011540279.1:c.2668-4506G>A (AFAP1L2) XP_011538581.1:n.2668-4506G>A
XM_011540280.1:c.2656-4506G>A (AFAP1L2) XP_011538582.1:n.2656-4506G>A
XM_011540281.1:c.2644-4506G>A (AFAP1L2) XP_011538583.1:n.2644-4506G>A
XM_011540282.1:c.2590-4506G>A (AFAP1L2) XP_011538584.1:n.2590-4506G>A
XM_011540286.1:c.2509-4506G>A (AFAP1L2) XP_011538588.1:n.2509-4506G>A
XM_011540287.1:c.2422-4506G>A (AFAP1L2) XP_011538589.1:n.2422-4506G>A
XM_011540288.1:c.2422-4506G>A (AFAP1L2) XP_011538590.1:n.2422-4506G>A
XM_017016177.1:c.1366C>T (VWA2) XP_016871666.1:p.Arg456Cys
XM_017016178.1:c.1357C>T (VWA2) XP_016871667.1:p.Arg453Cys
XM_017016179.2:c.1354C>T (VWA2) XP_016871668.1:p.Arg452Cys
XM_017016180.1:c.424C>T (VWA2) XP_016871669.1:p.Arg142Cys
XM_017016795.1:c.2569-4506G>A (AFAP1L2) XP_016872284.1:n.2569-4506G>A
XM_017016796.1:c.2515-4506G>A (AFAP1L2) XP_016872285.1:n.2515-4506G>A
XM_017016797.1:c.2512-4506G>A (AFAP1L2) XP_016872286.1:n.2512-4506G>A
XM_017016798.2:c.2503-4506G>A (AFAP1L2) XP_016872287.1:n.2503-4506G>A
XM_017016804.2:c.2419-4506G>A (AFAP1L2) XP_016872293.1:n.2419-4506G>A
XM_017016814.1:c.2347-4506G>A (AFAP1L2) XP_016872303.1:n.2347-4506G>A
XM_017016818.1:c.2266-4506G>A (AFAP1L2) XP_016872307.1:n.2266-4506G>A
XM_017016829.1:c.1915-4506G>A (AFAP1L2) XP_016872318.1:n.1915-4506G>A
XM_017016832.1:c.2242-4506G>A (AFAP1L2) XP_016872321.1:n.2242-4506G>A
XR_945723.1:n.1662C>T (VWA2)