Canonical Allele Identifier: CA1120510483

Gene: SMARCA2

Linked Data

• dbSNP Id: rs1823188367
• gnomAD v3: 9-2115751-G-GGGGTGGGGTCCGGTTTT
• gnomAD v4: 9-2115751-G-GGGGTGGGGTCCGGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115754_2115770dup , CM000671.2:g.2115754_2115770dup	GRCh38
NC_000009.11:g.2115754_2115770dup , CM000671.1:g.2115754_2115770dup	GRCh37
NC_000009.10:g.2105754_2105770dup	NCBI36
NG_032162.1:g.105413_105429dup
NG_032162.2:g.140465_140481dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3097-68_3097-52dup	ENSP00000515861.1:n.3097-68_3097-52dup
ENST00000704352.1:c.1174-45932_1174-45916dup	ENSP00000515863.1:n.1174-45932_1174-45916dup
ENST00000704353.1:c.1174-45932_1174-45916dup	ENSP00000515864.1:n.1174-45932_1174-45916dup
ENST00000704354.1:c.3441-68_3441-52dup
ENST00000704355.1:c.1821-68_1821-52dup
ENST00000349721.8:c.3457-68_3457-52dup MANE Select	ENSP00000265773.5:n.3457-68_3457-52dup
ENST00000357248.8:c.3457-68_3457-52dup	ENSP00000349788.2:n.3457-68_3457-52dup
ENST00000635739.1:n.2125-68_2125-52dup
ENST00000636157.1:n.1064-68_1064-52dup
ENST00000638139.1:n.491-68_491-52dup
ENST00000349721.7:c.3457-68_3457-52dup	ENSP00000265773.5:n.3457-68_3457-52dup
ENST00000357248.7:c.3457-68_3457-52dup	ENSP00000349788.2:n.3457-68_3457-52dup
ENST00000382194.6:c.3457-68_3457-52dup	ENSP00000371629.1:n.3457-68_3457-52dup
ENST00000382203.5:c.3457-68_3457-52dup	ENSP00000371638.1:n.3457-68_3457-52dup
ENST00000450198.6:c.3283-68_3283-52dup	ENSP00000392081.2:n.3283-68_3283-52dup
ENST00000634760.1:c.3457-68_3457-52dup	ENSP00000489256.1:n.3457-68_3457-52dup
ENST00000634772.1:c.62-3704_62-3688dup
ENST00000634925.1:n.948-68_948-52dup
NM_001289396.1:c.3457-68_3457-52dup	NP_001276325.1:n.3457-68_3457-52dup
NM_001289397.1:c.3283-68_3283-52dup	NP_001276326.1:n.3283-68_3283-52dup
NM_003070.4:c.3457-68_3457-52dup	NP_003061.3:n.3457-68_3457-52dup
NM_139045.3:c.3457-68_3457-52dup	NP_620614.2:n.3457-68_3457-52dup
NM_003070.5:c.3457-68_3457-52dup MANE Select	NP_003061.3:n.3457-68_3457-52dup
NM_001289397.2:c.3283-68_3283-52dup	NP_001276326.1:n.3283-68_3283-52dup
NM_139045.4:c.3457-68_3457-52dup	NP_620614.2:n.3457-68_3457-52dup