Canonical Allele Identifier: CA2576354465
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837341T>C , CM000679.2:g.63837341T>C GRCh38
NC_000017.10:g.61914701T>C , CM000679.1:g.61914701T>C GRCh37
NC_000017.9:g.59268433T>C NCBI36
NG_053004.1:g.10651A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.389A>G
ENST00000698015.1:n.35+100A>G
ENST00000698016.1:c.260+100A>G ENSP00000513502.1:n.260+100A>G
ENST00000698020.1:n.87A>G
ENST00000698021.1:c.64+100A>G
ENST00000698022.1:c.218+100A>G ENSP00000513504.1:n.218+100A>G
ENST00000698027.1:c.260+100A>G ENSP00000513505.1:n.260+100A>G
ENST00000448276.7:c.401+100A>G MANE Select ENSP00000392617.2:n.401+100A>G
ENST00000225742.13:c.176+100A>G ENSP00000225742.9:n.176+100A>G
ENST00000323347.14:c.257+100A>G ENSP00000318451.10:n.257+100A>G
ENST00000448276.6:c.401+100A>G ENSP00000392617.2:n.401+100A>G
ENST00000577686.1:n.53-104A>G
ENST00000580054.1:c.185+100A>G ENSP00000463793.1:n.185+100A>G
ENST00000584400.5:c.217-104A>G ENSP00000464503.1:n.217-104A>G
ENST00000613943.4:c.290+100A>G ENSP00000483605.1:n.290+100A>G
NM_001098426.1:c.401+100A>G NP_001091896.1:n.401+100A>G
XM_005257604.2:c.176+100A>G XP_005257661.2:n.176+100A>G
NM_001330439.1:c.176+100A>G NP_001317368.1:n.176+100A>G
NM_001330440.1:c.257+100A>G NP_001317369.1:n.257+100A>G
NM_001098426.2:c.401+100A>G MANE Select NP_001091896.1:n.401+100A>G
NM_001330440.2:c.257+100A>G NP_001317369.1:n.257+100A>G