Canonical Allele Identifier: CA8706527

Gene: SMARCD2

Linked Data

• dbSNP Id: rs781454839
• ExAC: 17:61914886 C / T
• gnomAD v2: 17-61914886-C-T
• gnomAD v3: 17-63837526-C-T
• gnomAD v4: 17-63837526-C-T
• MyVariant Identifiers: chr17:g.61914886C>T (hg19) ; chr17:g.63837526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837526C>T , CM000679.2:g.63837526C>T	GRCh38
NC_000017.10:g.61914886C>T , CM000679.1:g.61914886C>T	GRCh37
NC_000017.9:g.59268618C>T	NCBI36
NG_053004.1:g.10466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.204G>A
ENST00000698016.1:c.175G>A	ENSP00000513502.1:p.Gly59Ser
ENST00000698022.1:c.133G>A	ENSP00000513504.1:p.Gly45Ser
ENST00000698027.1:c.175G>A	ENSP00000513505.1:p.Gly59Ser
ENST00000448276.7:c.316G>A MANE Select	ENSP00000392617.2:p.Gly106Ser
ENST00000225742.13:c.91G>A	ENSP00000225742.9:p.Gly31Ser
ENST00000323347.14:c.172G>A	ENSP00000318451.10:p.Gly58Ser
ENST00000448276.6:c.316G>A	ENSP00000392617.2:p.Gly106Ser
ENST00000577686.1:n.53-289G>A
ENST00000580054.1:c.100G>A	ENSP00000463793.1:p.Gly34Ser
ENST00000584400.5:c.217-289G>A	ENSP00000464503.1:n.217-289G>A
ENST00000613943.4:c.205G>A	ENSP00000483605.1:p.Gly69Ser
NM_001098426.1:c.316G>A	NP_001091896.1:p.Gly106Ser
XM_005257604.2:c.91G>A	XP_005257661.2:p.Gly31Ser
NM_001330439.1:c.91G>A	NP_001317368.1:p.Gly31Ser
NM_001330440.1:c.172G>A	NP_001317369.1:p.Gly58Ser
NM_001098426.2:c.316G>A MANE Select	NP_001091896.1:p.Gly106Ser
NM_001330440.2:c.172G>A	NP_001317369.1:p.Gly58Ser