Canonical Allele Identifier: CA2639298425

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832522-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832522T>C , CM000679.2:g.63832522T>C	GRCh38
NC_000017.10:g.61909882T>C , CM000679.1:g.61909882T>C	GRCh37
NC_000017.9:g.59263614T>C	NCBI36
NG_053004.1:g.15470A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2291A>G
ENST00000697953.1:n.2864A>G
ENST00000698013.1:n.2976A>G
ENST00000698014.1:n.3199A>G
ENST00000698015.1:n.2292A>G
ENST00000698016.1:c.*416A>G	ENSP00000513502.1:n.*416A>G
ENST00000698017.1:n.2366A>G
ENST00000698018.1:n.2497A>G
ENST00000698019.1:n.2695A>G
ENST00000698020.1:n.1801A>G
ENST00000698021.1:c.1710A>G
ENST00000698022.1:c.*416A>G	ENSP00000513504.1:n.*416A>G
ENST00000698023.1:n.2395A>G
ENST00000698024.1:n.2257A>G
ENST00000698025.1:n.2417A>G
ENST00000698026.1:n.1308A>G
ENST00000698027.1:c.*633A>G	ENSP00000513505.1:n.*633A>G
ENST00000698028.1:n.2500A>G
ENST00000698029.1:n.3229A>G
ENST00000448276.7:c.*416A>G MANE Select	ENSP00000392617.2:n.*416A>G
ENST00000323347.14:c.*416A>G	ENSP00000318451.10:n.*416A>G
ENST00000448276.6:c.*416A>G	ENSP00000392617.2:n.*416A>G
ENST00000613943.4:c.1901A>G	ENSP00000483605.1:n.1901A>G
NM_001098426.1:c.*416A>G	NP_001091896.1:n.*416A>G
XM_005257604.2:c.*416A>G	XP_005257661.2:n.*416A>G
NM_001330439.1:c.*416A>G	NP_001317368.1:n.*416A>G
NM_001330440.1:c.*416A>G	NP_001317369.1:n.*416A>G
NM_001098426.2:c.*416A>G MANE Select	NP_001091896.1:n.*416A>G
NM_001330440.2:c.*416A>G	NP_001317369.1:n.*416A>G