Canonical Allele Identifier: CA985416120

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040204789
• gnomAD v3: 17-63832517-A-G
• gnomAD v4: 17-63832517-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832517A>G , CM000679.2:g.63832517A>G	GRCh38
NC_000017.10:g.61909877A>G , CM000679.1:g.61909877A>G	GRCh37
NC_000017.9:g.59263609A>G	NCBI36
NG_053004.1:g.15475T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2296T>C
ENST00000697953.1:n.2869T>C
ENST00000698013.1:n.2981T>C
ENST00000698014.1:n.3204T>C
ENST00000698015.1:n.2297T>C
ENST00000698016.1:c.*421T>C	ENSP00000513502.1:n.*421T>C
ENST00000698017.1:n.2371T>C
ENST00000698018.1:n.2502T>C
ENST00000698019.1:n.2700T>C
ENST00000698020.1:n.1806T>C
ENST00000698021.1:c.1715T>C
ENST00000698022.1:c.*421T>C	ENSP00000513504.1:n.*421T>C
ENST00000698023.1:n.2400T>C
ENST00000698024.1:n.2262T>C
ENST00000698025.1:n.2422T>C
ENST00000698026.1:n.1313T>C
ENST00000698027.1:c.*638T>C	ENSP00000513505.1:n.*638T>C
ENST00000698028.1:n.2505T>C
ENST00000698029.1:n.3234T>C
ENST00000448276.7:c.*421T>C MANE Select	ENSP00000392617.2:n.*421T>C
ENST00000323347.14:c.*421T>C	ENSP00000318451.10:n.*421T>C
ENST00000448276.6:c.*421T>C	ENSP00000392617.2:n.*421T>C
ENST00000613943.4:c.1906T>C	ENSP00000483605.1:n.1906T>C
NM_001098426.1:c.*421T>C	NP_001091896.1:n.*421T>C
XM_005257604.2:c.*421T>C	XP_005257661.2:n.*421T>C
NM_001330439.1:c.*421T>C	NP_001317368.1:n.*421T>C
NM_001330440.1:c.*421T>C	NP_001317369.1:n.*421T>C
NM_001098426.2:c.*421T>C MANE Select	NP_001091896.1:n.*421T>C
NM_001330440.2:c.*421T>C	NP_001317369.1:n.*421T>C