Canonical Allele Identifier: CA2506814334

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837666-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837666A>G , CM000679.2:g.63837666A>G	GRCh38
NC_000017.10:g.61915026A>G , CM000679.1:g.61915026A>G	GRCh37
NC_000017.9:g.59268758A>G	NCBI36
NG_053004.1:g.10326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.105-41T>C
ENST00000698016.1:c.35T>C	ENSP00000513502.1:p.Leu12Ser
ENST00000698022.1:c.34-41T>C	ENSP00000513504.1:n.34-41T>C
ENST00000698027.1:c.35T>C	ENSP00000513505.1:p.Leu12Ser
ENST00000448276.7:c.217-41T>C MANE Select	ENSP00000392617.2:n.217-41T>C
ENST00000225742.13:c.-9-41T>C	ENSP00000225742.9:n.-9-41T>C
ENST00000323347.14:c.73-41T>C	ENSP00000318451.10:n.73-41T>C
ENST00000448276.6:c.217-41T>C	ENSP00000392617.2:n.217-41T>C
ENST00000577686.1:n.53-429T>C
ENST00000584400.5:c.217-429T>C	ENSP00000464503.1:n.217-429T>C
ENST00000613943.4:c.106-41T>C	ENSP00000483605.1:n.106-41T>C
NM_001098426.1:c.217-41T>C	NP_001091896.1:n.217-41T>C
XM_005257604.2:c.-9-41T>C	XP_005257661.2:n.-9-41T>C
NM_001330439.1:c.-9-41T>C	NP_001317368.1:n.-9-41T>C
NM_001330440.1:c.73-41T>C	NP_001317369.1:n.73-41T>C
NM_001098426.2:c.217-41T>C MANE Select	NP_001091896.1:n.217-41T>C
NM_001330440.2:c.73-41T>C	NP_001317369.1:n.73-41T>C