Canonical Allele Identifier: CA8706530

Gene: SMARCD2

Linked Data

• dbSNP Id: rs778803525
• ExAC: 17:61914891 C / T
• gnomAD v2: 17-61914891-C-T
• gnomAD v3: 17-63837531-C-T
• gnomAD v4: 17-63837531-C-T
• COSMIC: COSM982732 ; COSM4869525
• MyVariant Identifiers: chr17:g.61914891C>T (hg19) ; chr17:g.63837531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837531C>T , CM000679.2:g.63837531C>T	GRCh38
NC_000017.10:g.61914891C>T , CM000679.1:g.61914891C>T	GRCh37
NC_000017.9:g.59268623C>T	NCBI36
NG_053004.1:g.10461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.199G>A
ENST00000698016.1:c.170G>A	ENSP00000513502.1:p.Arg57Gln
ENST00000698022.1:c.128G>A	ENSP00000513504.1:p.Arg43Gln
ENST00000698027.1:c.170G>A	ENSP00000513505.1:p.Arg57Gln
ENST00000448276.7:c.311G>A MANE Select	ENSP00000392617.2:p.Arg104Gln
ENST00000225742.13:c.86G>A	ENSP00000225742.9:p.Arg29Gln
ENST00000323347.14:c.167G>A	ENSP00000318451.10:p.Arg56Gln
ENST00000448276.6:c.311G>A	ENSP00000392617.2:p.Arg104Gln
ENST00000577686.1:n.53-294G>A
ENST00000580054.1:c.95G>A	ENSP00000463793.1:p.Arg32Gln
ENST00000584400.5:c.217-294G>A	ENSP00000464503.1:n.217-294G>A
ENST00000613943.4:c.200G>A	ENSP00000483605.1:p.Arg67Gln
NM_001098426.1:c.311G>A	NP_001091896.1:p.Arg104Gln
XM_005257604.2:c.86G>A	XP_005257661.2:p.Arg29Gln
NM_001330439.1:c.86G>A	NP_001317368.1:p.Arg29Gln
NM_001330440.1:c.167G>A	NP_001317369.1:p.Arg56Gln
NM_001098426.2:c.311G>A MANE Select	NP_001091896.1:p.Arg104Gln
NM_001330440.2:c.167G>A	NP_001317369.1:p.Arg56Gln