Canonical Allele Identifier: CA8706511

Gene: SMARCD2

Linked Data

• dbSNP Id: rs771041652
• ExAC: 17:61914802 C / G
• gnomAD v2: 17-61914802-C-G
• gnomAD v4: 17-63837442-C-G
• MyVariant Identifiers: chr17:g.61914802C>G (hg19) ; chr17:g.63837442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837442C>G , CM000679.2:g.63837442C>G	GRCh38
NC_000017.10:g.61914802C>G , CM000679.1:g.61914802C>G	GRCh37
NC_000017.9:g.59268534C>G	NCBI36
NG_053004.1:g.10550G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.288G>C
ENST00000698015.1:n.34G>C
ENST00000698016.1:c.259G>C	ENSP00000513502.1:p.Gly87Arg
ENST00000698021.1:c.63G>C
ENST00000698022.1:c.217G>C	ENSP00000513504.1:p.Gly73Arg
ENST00000698027.1:c.259G>C	ENSP00000513505.1:p.Gly87Arg
ENST00000448276.7:c.400G>C MANE Select	ENSP00000392617.2:p.Gly134Arg
ENST00000225742.13:c.175G>C	ENSP00000225742.9:p.Gly59Arg
ENST00000323347.14:c.256G>C	ENSP00000318451.10:p.Gly86Arg
ENST00000448276.6:c.400G>C	ENSP00000392617.2:p.Gly134Arg
ENST00000577686.1:n.53-205G>C
ENST00000580054.1:c.184G>C	ENSP00000463793.1:p.Gly62Arg
ENST00000584400.5:c.217-205G>C	ENSP00000464503.1:n.217-205G>C
ENST00000613943.4:c.289G>C	ENSP00000483605.1:p.Gly97Arg
NM_001098426.1:c.400G>C	NP_001091896.1:p.Gly134Arg
XM_005257604.2:c.175G>C	XP_005257661.2:p.Gly59Arg
NM_001330439.1:c.175G>C	NP_001317368.1:p.Gly59Arg
NM_001330440.1:c.256G>C	NP_001317369.1:p.Gly86Arg
NM_001098426.2:c.400G>C MANE Select	NP_001091896.1:p.Gly134Arg
NM_001330440.2:c.256G>C	NP_001317369.1:p.Gly86Arg