Canonical Allele Identifier: CA372790149

Gene: SMARCA2

Linked Data

• MyVariant Identifiers: chr9:g.2123722A>C (hg19) ; chr9:g.2123722A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2123722A>C , CM000671.2:g.2123722A>C	GRCh38
NC_000009.11:g.2123722A>C , CM000671.1:g.2123722A>C	GRCh37
NC_000009.10:g.2113722A>C	NCBI36
NG_032162.1:g.113381A>C
NG_032162.2:g.148433A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704350.1:c.3406A>C	ENSP00000515861.1:p.Met1136Leu
ENST00000704352.1:c.1174-37964A>C	ENSP00000515863.1:n.1174-37964A>C
ENST00000704353.1:c.1174-37964A>C	ENSP00000515864.1:n.1174-37964A>C
ENST00000704354.1:c.3750A>C
ENST00000704355.1:c.2130A>C
ENST00000349721.8:c.3766A>C MANE Select	ENSP00000265773.5:p.Met1256Leu
ENST00000357248.8:c.3766A>C	ENSP00000349788.2:p.Met1256Leu
ENST00000635739.1:n.2434A>C
ENST00000636157.1:n.1373A>C
ENST00000638139.1:n.800A>C
ENST00000349721.7:c.3766A>C	ENSP00000265773.5:p.Met1256Leu
ENST00000357248.7:c.3766A>C	ENSP00000349788.2:p.Met1256Leu
ENST00000382194.6:c.3766A>C	ENSP00000371629.1:p.Met1256Leu
ENST00000382203.5:c.3766A>C	ENSP00000371638.1:p.Met1256Leu
ENST00000450198.6:c.3592A>C	ENSP00000392081.2:p.Met1198Leu
ENST00000634760.1:c.3766A>C	ENSP00000489256.1:p.Met1256Leu
ENST00000634772.1:c.143A>C
ENST00000634925.1:n.1257A>C
NM_001289396.1:c.3766A>C	NP_001276325.1:p.Met1256Leu
NM_001289397.1:c.3592A>C	NP_001276326.1:p.Met1198Leu
NM_003070.4:c.3766A>C	NP_003061.3:p.Met1256Leu
NM_139045.3:c.3766A>C	NP_620614.2:p.Met1256Leu
NM_003070.5:c.3766A>C MANE Select	NP_003061.3:p.Met1256Leu
NM_001289397.2:c.3592A>C	NP_001276326.1:p.Met1198Leu
NM_139045.4:c.3766A>C	NP_620614.2:p.Met1256Leu