Canonical Allele Identifier: CA2270105503

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040278708

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837373A>G , CM000679.2:g.63837373A>G	GRCh38
NC_000017.10:g.61914733A>G , CM000679.1:g.61914733A>G	GRCh37
NC_000017.9:g.59268465A>G	NCBI36
NG_053004.1:g.10619T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.357T>C
ENST00000698015.1:n.35+68T>C
ENST00000698016.1:c.260+68T>C	ENSP00000513502.1:n.260+68T>C
ENST00000698020.1:n.55T>C
ENST00000698021.1:c.64+68T>C
ENST00000698022.1:c.218+68T>C	ENSP00000513504.1:n.218+68T>C
ENST00000698027.1:c.260+68T>C	ENSP00000513505.1:n.260+68T>C
ENST00000448276.7:c.401+68T>C MANE Select	ENSP00000392617.2:n.401+68T>C
ENST00000225742.13:c.176+68T>C	ENSP00000225742.9:n.176+68T>C
ENST00000323347.14:c.257+68T>C	ENSP00000318451.10:n.257+68T>C
ENST00000448276.6:c.401+68T>C	ENSP00000392617.2:n.401+68T>C
ENST00000577686.1:n.53-136T>C
ENST00000580054.1:c.185+68T>C	ENSP00000463793.1:n.185+68T>C
ENST00000584400.5:c.217-136T>C	ENSP00000464503.1:n.217-136T>C
ENST00000613943.4:c.290+68T>C	ENSP00000483605.1:n.290+68T>C
NM_001098426.1:c.401+68T>C	NP_001091896.1:n.401+68T>C
XM_005257604.2:c.176+68T>C	XP_005257661.2:n.176+68T>C
NM_001330439.1:c.176+68T>C	NP_001317368.1:n.176+68T>C
NM_001330440.1:c.257+68T>C	NP_001317369.1:n.257+68T>C
NM_001098426.2:c.401+68T>C MANE Select	NP_001091896.1:n.401+68T>C
NM_001330440.2:c.257+68T>C	NP_001317369.1:n.257+68T>C