Canonical Allele Identifier: CA2270103120

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040205111

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832547T>C , CM000679.2:g.63832547T>C	GRCh38
NC_000017.10:g.61909907T>C , CM000679.1:g.61909907T>C	GRCh37
NC_000017.9:g.59263639T>C	NCBI36
NG_053004.1:g.15445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2266A>G
ENST00000697953.1:n.2839A>G
ENST00000698013.1:n.2951A>G
ENST00000698014.1:n.3174A>G
ENST00000698015.1:n.2267A>G
ENST00000698016.1:c.*391A>G	ENSP00000513502.1:n.*391A>G
ENST00000698017.1:n.2341A>G
ENST00000698018.1:n.2472A>G
ENST00000698019.1:n.2670A>G
ENST00000698020.1:n.1776A>G
ENST00000698021.1:c.1685A>G
ENST00000698022.1:c.*391A>G	ENSP00000513504.1:n.*391A>G
ENST00000698023.1:n.2370A>G
ENST00000698024.1:n.2232A>G
ENST00000698025.1:n.2392A>G
ENST00000698026.1:n.1283A>G
ENST00000698027.1:c.*608A>G	ENSP00000513505.1:n.*608A>G
ENST00000698028.1:n.2475A>G
ENST00000698029.1:n.3204A>G
ENST00000448276.7:c.*391A>G MANE Select	ENSP00000392617.2:n.*391A>G
ENST00000323347.14:c.*391A>G	ENSP00000318451.10:n.*391A>G
ENST00000448276.6:c.*391A>G	ENSP00000392617.2:n.*391A>G
ENST00000613943.4:c.1876A>G	ENSP00000483605.1:n.1876A>G
NM_001098426.1:c.*391A>G	NP_001091896.1:n.*391A>G
XM_005257604.2:c.*391A>G	XP_005257661.2:n.*391A>G
NM_001330439.1:c.*391A>G	NP_001317368.1:n.*391A>G
NM_001330440.1:c.*391A>G	NP_001317369.1:n.*391A>G
NM_001098426.2:c.*391A>G MANE Select	NP_001091896.1:n.*391A>G
NM_001330440.2:c.*391A>G	NP_001317369.1:n.*391A>G