Canonical Allele Identifier: CA2270103371

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040202091
• gnomAD v4: 17-63832340-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832340T>C , CM000679.2:g.63832340T>C	GRCh38
NC_000017.10:g.61909700T>C , CM000679.1:g.61909700T>C	GRCh37
NC_000017.9:g.59263432T>C	NCBI36
NG_053004.1:g.15652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2473A>G
ENST00000697953.1:n.3046A>G
ENST00000698013.1:n.3158A>G
ENST00000698014.1:n.3381A>G
ENST00000698015.1:n.2474A>G
ENST00000698016.1:c.*598A>G	ENSP00000513502.1:n.*598A>G
ENST00000698017.1:n.2548A>G
ENST00000698018.1:n.2679A>G
ENST00000698019.1:n.2877A>G
ENST00000698020.1:n.1983A>G
ENST00000698021.1:c.1892A>G
ENST00000698022.1:c.*598A>G	ENSP00000513504.1:n.*598A>G
ENST00000698023.1:n.2577A>G
ENST00000698024.1:n.2439A>G
ENST00000698025.1:n.2599A>G
ENST00000698026.1:n.1490A>G
ENST00000698027.1:c.*815A>G	ENSP00000513505.1:n.*815A>G
ENST00000698028.1:n.2682A>G
ENST00000698029.1:n.3411A>G
ENST00000448276.7:c.*598A>G MANE Select	ENSP00000392617.2:n.*598A>G
ENST00000448276.6:c.*598A>G	ENSP00000392617.2:n.*598A>G
ENST00000613943.4:c.2083A>G	ENSP00000483605.1:n.2083A>G
NM_001098426.1:c.*598A>G	NP_001091896.1:n.*598A>G
XM_005257604.2:c.*598A>G	XP_005257661.2:n.*598A>G
NM_001330439.1:c.*598A>G	NP_001317368.1:n.*598A>G
NM_001330440.1:c.*598A>G	NP_001317369.1:n.*598A>G
NM_001098426.2:c.*598A>G MANE Select	NP_001091896.1:n.*598A>G
NM_001330440.2:c.*598A>G	NP_001317369.1:n.*598A>G