Canonical Allele Identifier: CA187888953
Community Standard Title: NM_003070.5(SMARCA2):c.226-211_226-208dup
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2032741_2032744dup , CM000671.2:g.2032741_2032744dup GRCh38
NC_000009.11:g.2032741_2032744dup , CM000671.1:g.2032741_2032744dup GRCh37
NC_000009.10:g.2022741_2022744dup NCBI36
NG_032162.1:g.22400_22403dup
NG_032162.2:g.57452_57455dup

Transcript Alleles

HGVS Amino-acid Change
NM_003070.5:c.226-211_226-208dup MANE Select NP_003061.3:n.226-211_226-208dup
ENST00000349721.8:c.226-211_226-208dup MANE Select ENSP00000265773.5:n.226-211_226-208dup
NM_001289396.1:c.226-211_226-208dup NP_001276325.1:n.226-211_226-208dup
NM_001289397.1:c.226-211_226-208dup NP_001276326.1:n.226-211_226-208dup
NM_001289397.2:c.226-211_226-208dup NP_001276326.1:n.226-211_226-208dup
NM_003070.4:c.226-211_226-208dup NP_003061.3:n.226-211_226-208dup
NM_139045.3:c.226-211_226-208dup NP_620614.2:n.226-211_226-208dup
NM_139045.4:c.226-211_226-208dup NP_620614.2:n.226-211_226-208dup
ENST00000349721.7:c.226-211_226-208dup ENSP00000265773.5:n.226-211_226-208dup
ENST00000357248.7:c.226-211_226-208dup ENSP00000349788.2:n.226-211_226-208dup
ENST00000357248.8:c.226-211_226-208dup ENSP00000349788.2:n.226-211_226-208dup
ENST00000382194.6:c.226-211_226-208dup ENSP00000371629.1:n.226-211_226-208dup
ENST00000382203.5:c.226-211_226-208dup ENSP00000371638.1:n.226-211_226-208dup
ENST00000439732.6:c.226-211_226-208dup ENSP00000409398.2:n.226-211_226-208dup
ENST00000450198.6:c.226-211_226-208dup ENSP00000392081.2:n.226-211_226-208dup
ENST00000457226.2:c.226-211_226-208dup ENSP00000415218.2:n.226-211_226-208dup
ENST00000491574.2:n.123+99_123+102dup
ENST00000634287.1:c.-54-211_-54-208dup ENSP00000489142.1:n.-54-211_-54-208dup
ENST00000634536.1:n.320-211_320-208dup
ENST00000634760.1:c.226-211_226-208dup ENSP00000489256.1:n.226-211_226-208dup
ENST00000636559.1:c.226-211_226-208dup ENSP00000490852.1:n.226-211_226-208dup
ENST00000636903.1:c.226-211_226-208dup ENSP00000489968.1:n.226-211_226-208dup
ENST00000637103.1:c.226-211_226-208dup ENSP00000490486.1:n.226-211_226-208dup
ENST00000637134.2:c.226-211_226-208dup ENSP00000489667.2:n.226-211_226-208dup
ENST00000637806.1:c.226-211_226-208dup ENSP00000490551.1:n.226-211_226-208dup
ENST00000704350.1:c.-5-6725_-5-6722dup ENSP00000515861.1:n.-5-6725_-5-6722dup
ENST00000704351.1:c.226-211_226-208dup ENSP00000515862.1:n.226-211_226-208dup
ENST00000704352.1:c.226-211_226-208dup ENSP00000515863.1:n.226-211_226-208dup
ENST00000704353.1:c.226-211_226-208dup ENSP00000515864.1:n.226-211_226-208dup