Canonical Allele Identifier: CA372784872
Community Standard Title: NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu)
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2086866G>T , CM000671.2:g.2086866G>T GRCh38
NC_000009.11:g.2086866G>T , CM000671.1:g.2086866G>T GRCh37
NC_000009.10:g.2076866G>T NCBI36
NG_032162.1:g.76525G>T
NG_032162.2:g.111577G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003070.5:c.2564G>T MANE Select NP_003061.3:p.Arg855Leu
ENST00000349721.8:c.2564G>T MANE Select ENSP00000265773.5:p.Arg855Leu
NM_001289396.1:c.2564G>T NP_001276325.1:p.Arg855Leu
NM_001289397.1:c.2564G>T NP_001276326.1:p.Arg855Leu
NM_001289397.2:c.2564G>T NP_001276326.1:p.Arg855Leu
NM_003070.4:c.2564G>T NP_003061.3:p.Arg855Leu
NM_139045.3:c.2564G>T NP_620614.2:p.Arg855Leu
NM_139045.4:c.2564G>T NP_620614.2:p.Arg855Leu
ENST00000349721.7:c.2564G>T ENSP00000265773.5:p.Arg855Leu
ENST00000357248.7:c.2564G>T ENSP00000349788.2:p.Arg855Leu
ENST00000357248.8:c.2564G>T ENSP00000349788.2:p.Arg855Leu
ENST00000382194.6:c.2564G>T ENSP00000371629.1:p.Arg855Leu
ENST00000382203.5:c.2564G>T ENSP00000371638.1:p.Arg855Leu
ENST00000450198.6:c.2564G>T ENSP00000392081.2:p.Arg855Leu
ENST00000634760.1:c.2564G>T ENSP00000489256.1:p.Arg855Leu
ENST00000634925.1:n.55G>T
ENST00000635185.1:c.537-1634G>T
ENST00000635739.1:n.1232G>T
ENST00000636157.1:n.171G>T
ENST00000637134.2:c.2564G>T ENSP00000489667.2:p.Arg855Leu
ENST00000704350.1:c.2204G>T ENSP00000515861.1:p.Arg735Leu
ENST00000704352.1:c.1173+32143G>T ENSP00000515863.1:n.1173+32143G>T
ENST00000704353.1:c.1173+32143G>T ENSP00000515864.1:n.1173+32143G>T
ENST00000704354.1:c.2548G>T
ENST00000704355.1:c.928G>T