Canonical Allele Identifier: CA400601469

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 2550652
• ClinVar RCV Id: RCV003258366
• gnomAD v4: 17-63837454-C-T
• MyVariant Identifiers: chr17:g.61914814C>T (hg19) ; chr17:g.63837454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837454C>T , CM000679.2:g.63837454C>T	GRCh38
NC_000017.10:g.61914814C>T , CM000679.1:g.61914814C>T	GRCh37
NC_000017.9:g.59268546C>T	NCBI36
NG_053004.1:g.10538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.276G>A
ENST00000698015.1:n.22G>A
ENST00000698016.1:c.247G>A	ENSP00000513502.1:p.Ala83Thr
ENST00000698021.1:c.51G>A
ENST00000698022.1:c.205G>A	ENSP00000513504.1:p.Ala69Thr
ENST00000698027.1:c.247G>A	ENSP00000513505.1:p.Ala83Thr
ENST00000448276.7:c.388G>A MANE Select	ENSP00000392617.2:p.Ala130Thr
ENST00000225742.13:c.163G>A	ENSP00000225742.9:p.Ala55Thr
ENST00000323347.14:c.244G>A	ENSP00000318451.10:p.Ala82Thr
ENST00000448276.6:c.388G>A	ENSP00000392617.2:p.Ala130Thr
ENST00000577686.1:n.53-217G>A
ENST00000580054.1:c.172G>A	ENSP00000463793.1:p.Ala58Thr
ENST00000584400.5:c.217-217G>A	ENSP00000464503.1:n.217-217G>A
ENST00000613943.4:c.277G>A	ENSP00000483605.1:p.Ala93Thr
NM_001098426.1:c.388G>A	NP_001091896.1:p.Ala130Thr
XM_005257604.2:c.163G>A	XP_005257661.2:p.Ala55Thr
NM_001330439.1:c.163G>A	NP_001317368.1:p.Ala55Thr
NM_001330440.1:c.244G>A	NP_001317369.1:p.Ala82Thr
NM_001098426.2:c.388G>A MANE Select	NP_001091896.1:p.Ala130Thr
NM_001330440.2:c.244G>A	NP_001317369.1:p.Ala82Thr