Canonical Allele Identifier: CA385337600

Gene: SMARCC2

Linked Data

• dbSNP Id: rs1218565699
• gnomAD v2: 12-56557546-G-A
• gnomAD v3: 12-56163762-G-A
• gnomAD v4: 12-56163762-G-A
• MyVariant Identifiers: chr12:g.56557546G>A (hg19) ; chr12:g.56163762G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3665C>T MANE Select	ENSP00000449396.1:p.Pro1222Leu
ENST00000267064.8:c.3572C>T	ENSP00000267064.4:p.Pro1191Leu
ENST00000347471.8:c.3320C>T	ENSP00000302919.4:p.Pro1107Leu
ENST00000394023.7:c.3386C>T	ENSP00000377591.3:p.Pro1129Leu
ENST00000550164.5:c.3665C>T	ENSP00000449396.1:p.Pro1222Leu
ENST00000552674.5:c.*2983C>T	ENSP00000447680.1:n.*2983C>T
NM_001130420.1:c.3386C>T	NP_001123892.1:p.Pro1129Leu
NM_003075.3:c.3572C>T	NP_003066.2:p.Pro1191Leu
NM_139067.2:c.3320C>T	NP_620706.1:p.Pro1107Leu
XM_005269101.1:c.3665C>T	XP_005269158.1:p.Pro1222Leu
XM_005269102.1:c.3662C>T	XP_005269159.1:p.Pro1221Leu
XM_005269103.1:c.3569C>T	XP_005269160.1:p.Pro1190Leu
XM_005269104.1:c.3383C>T	XP_005269161.1:p.Pro1128Leu
XM_011538693.1:c.2912C>T	XP_011536995.1:p.Pro971Leu
NM_001130420.2:c.3386C>T	NP_001123892.1:p.Pro1129Leu
NM_001330288.1:c.3665C>T	NP_001317217.1:p.Pro1222Leu
NM_003075.4:c.3572C>T	NP_003066.2:p.Pro1191Leu
NM_139067.3:c.3320C>T	NP_620706.1:p.Pro1107Leu
XM_005269102.2:c.3662C>T	XP_005269159.1:p.Pro1221Leu
XM_005269103.2:c.3569C>T	XP_005269160.1:p.Pro1190Leu
XM_011538693.3:c.2912C>T	XP_011536995.1:p.Pro971Leu
XM_017019884.1:c.3317C>T	XP_016875373.1:p.Pro1106Leu
XM_017019885.1:c.3293C>T	XP_016875374.1:p.Pro1098Leu
XM_017019886.1:c.3227C>T	XP_016875375.1:p.Pro1076Leu
XM_017019887.2:c.2819C>T	XP_016875376.1:p.Pro940Leu
XR_002957373.1:n.3449C>T
XR_002957374.1:n.3170C>T
NM_001330288.2:c.3665C>T MANE Select	NP_001317217.1:p.Pro1222Leu
NM_001130420.3:c.3386C>T	NP_001123892.1:p.Pro1129Leu
NM_003075.5:c.3572C>T	NP_003066.2:p.Pro1191Leu
NM_139067.4:c.3320C>T	NP_620706.1:p.Pro1107Leu