Canonical Allele Identifier: CA4962974

Gene: SMARCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2039826C>T , CM000671.2:g.2039826C>T	GRCh38
NC_000009.11:g.2039826C>T , CM000671.1:g.2039826C>T	GRCh37
NC_000009.10:g.2029826C>T	NCBI36
NG_032162.1:g.29485C>T
NG_032162.2:g.64537C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003070.5:c.716C>T MANE Select	NP_003061.3:p.Pro239Leu
ENST00000349721.8:c.716C>T MANE Select	ENSP00000265773.5:p.Pro239Leu
NM_001289396.1:c.716C>T	NP_001276325.1:p.Pro239Leu
NM_001289397.1:c.716C>T	NP_001276326.1:p.Pro239Leu
NM_001289397.2:c.716C>T	NP_001276326.1:p.Pro239Leu
NM_003070.4:c.716C>T	NP_003061.3:p.Pro239Leu
NM_139045.3:c.716C>T	NP_620614.2:p.Pro239Leu
NM_139045.4:c.716C>T	NP_620614.2:p.Pro239Leu
ENST00000349721.7:c.716C>T	ENSP00000265773.5:p.Pro239Leu
ENST00000357248.7:c.716C>T	ENSP00000349788.2:p.Pro239Leu
ENST00000357248.8:c.716C>T	ENSP00000349788.2:p.Pro239Leu
ENST00000382194.6:c.716C>T	ENSP00000371629.1:p.Pro239Leu
ENST00000382203.5:c.716C>T	ENSP00000371638.1:p.Pro239Leu
ENST00000450198.6:c.716C>T	ENSP00000392081.2:p.Pro239Leu
ENST00000491574.2:n.614C>T
ENST00000634760.1:c.716C>T	ENSP00000489256.1:p.Pro239Leu
ENST00000636559.1:c.716C>T	ENSP00000490852.1:p.Pro239Leu
ENST00000636903.1:c.716C>T	ENSP00000489968.1:p.Pro239Leu
ENST00000637103.1:c.716C>T	ENSP00000490486.1:p.Pro239Leu
ENST00000637134.2:c.716C>T	ENSP00000489667.2:p.Pro239Leu
ENST00000637806.1:c.716C>T	ENSP00000490551.1:p.Pro239Leu
ENST00000704350.1:c.356C>T	ENSP00000515861.1:p.Pro119Leu
ENST00000704351.1:c.*331C>T	ENSP00000515862.1:n.*331C>T
ENST00000704352.1:c.716C>T	ENSP00000515863.1:p.Pro239Leu
ENST00000704353.1:c.716C>T	ENSP00000515864.1:p.Pro239Leu
ENST00000704354.1:c.700C>T