Canonical Allele Identifier: CA372788630
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115837G>A , CM000671.2:g.2115837G>A GRCh38
NC_000009.11:g.2115837G>A , CM000671.1:g.2115837G>A GRCh37
NC_000009.10:g.2105837G>A NCBI36
NG_032162.1:g.105496G>A
NG_032162.2:g.140548G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3112G>A ENSP00000515861.1:p.Asp1038Asn
ENST00000704352.1:c.1174-45849G>A ENSP00000515863.1:n.1174-45849G>A
ENST00000704353.1:c.1174-45849G>A ENSP00000515864.1:n.1174-45849G>A
ENST00000704354.1:c.3456G>A
ENST00000704355.1:c.1836G>A
ENST00000349721.8:c.3472G>A MANE Select ENSP00000265773.5:p.Asp1158Asn
ENST00000357248.8:c.3472G>A ENSP00000349788.2:p.Asp1158Asn
ENST00000635739.1:n.2140G>A
ENST00000636157.1:n.1079G>A
ENST00000638139.1:n.506G>A
ENST00000349721.7:c.3472G>A ENSP00000265773.5:p.Asp1158Asn
ENST00000357248.7:c.3472G>A ENSP00000349788.2:p.Asp1158Asn
ENST00000382194.6:c.3472G>A ENSP00000371629.1:p.Asp1158Asn
ENST00000382203.5:c.3472G>A ENSP00000371638.1:p.Asp1158Asn
ENST00000450198.6:c.3298G>A ENSP00000392081.2:p.Asp1100Asn
ENST00000634760.1:c.3472G>A ENSP00000489256.1:p.Asp1158Asn
ENST00000634772.1:c.62-3621G>A
ENST00000634925.1:n.963G>A
NM_001289396.1:c.3472G>A NP_001276325.1:p.Asp1158Asn
NM_001289397.1:c.3298G>A NP_001276326.1:p.Asp1100Asn
NM_003070.4:c.3472G>A NP_003061.3:p.Asp1158Asn
NM_139045.3:c.3472G>A NP_620614.2:p.Asp1158Asn
NM_003070.5:c.3472G>A MANE Select NP_003061.3:p.Asp1158Asn
NM_001289397.2:c.3298G>A NP_001276326.1:p.Asp1100Asn
NM_139045.4:c.3472G>A NP_620614.2:p.Asp1158Asn