Canonical Allele Identifier: CA385337602

Gene: SMARCC2

Linked Data

• gnomAD v4: 12-56163762-G-T
• MyVariant Identifiers: chr12:g.56557546G>T (hg19) ; chr12:g.56163762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163762G>T , CM000674.2:g.56163762G>T	GRCh38
NC_000012.11:g.56557546G>T , CM000674.1:g.56557546G>T	GRCh37
NC_000012.10:g.54843813G>T	NCBI36
NG_047081.1:g.30806C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3665C>A MANE Select	ENSP00000449396.1:p.Pro1222Gln
ENST00000267064.8:c.3572C>A	ENSP00000267064.4:p.Pro1191Gln
ENST00000347471.8:c.3320C>A	ENSP00000302919.4:p.Pro1107Gln
ENST00000394023.7:c.3386C>A	ENSP00000377591.3:p.Pro1129Gln
ENST00000550164.5:c.3665C>A	ENSP00000449396.1:p.Pro1222Gln
ENST00000552674.5:c.*2983C>A	ENSP00000447680.1:n.*2983C>A
NM_001130420.1:c.3386C>A	NP_001123892.1:p.Pro1129Gln
NM_003075.3:c.3572C>A	NP_003066.2:p.Pro1191Gln
NM_139067.2:c.3320C>A	NP_620706.1:p.Pro1107Gln
XM_005269101.1:c.3665C>A	XP_005269158.1:p.Pro1222Gln
XM_005269102.1:c.3662C>A	XP_005269159.1:p.Pro1221Gln
XM_005269103.1:c.3569C>A	XP_005269160.1:p.Pro1190Gln
XM_005269104.1:c.3383C>A	XP_005269161.1:p.Pro1128Gln
XM_011538693.1:c.2912C>A	XP_011536995.1:p.Pro971Gln
NM_001130420.2:c.3386C>A	NP_001123892.1:p.Pro1129Gln
NM_001330288.1:c.3665C>A	NP_001317217.1:p.Pro1222Gln
NM_003075.4:c.3572C>A	NP_003066.2:p.Pro1191Gln
NM_139067.3:c.3320C>A	NP_620706.1:p.Pro1107Gln
XM_005269102.2:c.3662C>A	XP_005269159.1:p.Pro1221Gln
XM_005269103.2:c.3569C>A	XP_005269160.1:p.Pro1190Gln
XM_011538693.3:c.2912C>A	XP_011536995.1:p.Pro971Gln
XM_017019884.1:c.3317C>A	XP_016875373.1:p.Pro1106Gln
XM_017019885.1:c.3293C>A	XP_016875374.1:p.Pro1098Gln
XM_017019886.1:c.3227C>A	XP_016875375.1:p.Pro1076Gln
XM_017019887.2:c.2819C>A	XP_016875376.1:p.Pro940Gln
XR_002957373.1:n.3449C>A
XR_002957374.1:n.3170C>A
NM_001330288.2:c.3665C>A MANE Select	NP_001317217.1:p.Pro1222Gln
NM_001130420.3:c.3386C>A	NP_001123892.1:p.Pro1129Gln
NM_003075.5:c.3572C>A	NP_003066.2:p.Pro1191Gln
NM_139067.4:c.3320C>A	NP_620706.1:p.Pro1107Gln