Canonical Allele Identifier: CA914196850

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1567763061
• gnomAD v2: 17-61915055-C-G
• gnomAD v3: 17-63837695-C-G
• gnomAD v4: 17-63837695-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837695C>G , CM000679.2:g.63837695C>G	GRCh38
NC_000017.10:g.61915055C>G , CM000679.1:g.61915055C>G	GRCh37
NC_000017.9:g.59268787C>G	NCBI36
NG_053004.1:g.10297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.105-70G>C
ENST00000698016.1:c.6G>C	ENSP00000513502.1:p.Glu2Asp
ENST00000698022.1:c.34-70G>C	ENSP00000513504.1:n.34-70G>C
ENST00000698027.1:c.6G>C	ENSP00000513505.1:p.Glu2Asp
ENST00000448276.7:c.217-70G>C MANE Select	ENSP00000392617.2:n.217-70G>C
ENST00000225742.13:c.-9-70G>C	ENSP00000225742.9:n.-9-70G>C
ENST00000323347.14:c.73-70G>C	ENSP00000318451.10:n.73-70G>C
ENST00000448276.6:c.217-70G>C	ENSP00000392617.2:n.217-70G>C
ENST00000577686.1:n.53-458G>C
ENST00000584400.5:c.217-458G>C	ENSP00000464503.1:n.217-458G>C
ENST00000613943.4:c.106-70G>C	ENSP00000483605.1:n.106-70G>C
NM_001098426.1:c.217-70G>C	NP_001091896.1:n.217-70G>C
XM_005257604.2:c.-9-70G>C	XP_005257661.2:n.-9-70G>C
NM_001330439.1:c.-9-70G>C	NP_001317368.1:n.-9-70G>C
NM_001330440.1:c.73-70G>C	NP_001317369.1:n.73-70G>C
NM_001098426.2:c.217-70G>C MANE Select	NP_001091896.1:n.217-70G>C
NM_001330440.2:c.73-70G>C	NP_001317369.1:n.73-70G>C