Canonical Allele Identifier: CA400601657

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 1946191
• ClinVar RCV Id: RCV002658722
• MyVariant Identifiers: chr17:g.61914909C>A (hg19) ; chr17:g.63837549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837549C>A , CM000679.2:g.63837549C>A	GRCh38
NC_000017.10:g.61914909C>A , CM000679.1:g.61914909C>A	GRCh37
NC_000017.9:g.59268641C>A	NCBI36
NG_053004.1:g.10443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.181G>T
ENST00000698016.1:c.152G>T	ENSP00000513502.1:p.Gly51Val
ENST00000698022.1:c.110G>T	ENSP00000513504.1:p.Gly37Val
ENST00000698027.1:c.152G>T	ENSP00000513505.1:p.Gly51Val
ENST00000448276.7:c.293G>T MANE Select	ENSP00000392617.2:p.Gly98Val
ENST00000225742.13:c.68G>T	ENSP00000225742.9:p.Gly23Val
ENST00000323347.14:c.149G>T	ENSP00000318451.10:p.Gly50Val
ENST00000448276.6:c.293G>T	ENSP00000392617.2:p.Gly98Val
ENST00000577686.1:n.53-312G>T
ENST00000580054.1:c.77G>T	ENSP00000463793.1:p.Gly26Val
ENST00000584400.5:c.217-312G>T	ENSP00000464503.1:n.217-312G>T
ENST00000613943.4:c.182G>T	ENSP00000483605.1:p.Gly61Val
NM_001098426.1:c.293G>T	NP_001091896.1:p.Gly98Val
XM_005257604.2:c.68G>T	XP_005257661.2:p.Gly23Val
NM_001330439.1:c.68G>T	NP_001317368.1:p.Gly23Val
NM_001330440.1:c.149G>T	NP_001317369.1:p.Gly50Val
NM_001098426.2:c.293G>T MANE Select	NP_001091896.1:p.Gly98Val
NM_001330440.2:c.149G>T	NP_001317369.1:p.Gly50Val