Canonical Allele Identifier: CA16040623
Gene: SMARCD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369731
dbSNP Id: rs1057518733

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837439A>G , CM000679.2:g.63837439A>G GRCh38
NC_000017.10:g.61914799A>G , CM000679.1:g.61914799A>G GRCh37
NC_000017.9:g.59268531A>G NCBI36
NG_053004.1:g.10553T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697953.1:n.291T>C
ENST00000698015.1:n.35+2T>C
ENST00000698016.1:c.260+2T>C ENSP00000513502.1:n.260+2T>C
ENST00000698021.1:c.64+2T>C
ENST00000698022.1:c.218+2T>C ENSP00000513504.1:n.218+2T>C
ENST00000698027.1:c.260+2T>C ENSP00000513505.1:n.260+2T>C
ENST00000448276.7:c.401+2T>C MANE Select ENSP00000392617.2:n.401+2T>C
ENST00000225742.13:c.176+2T>C ENSP00000225742.9:n.176+2T>C
ENST00000323347.14:c.257+2T>C ENSP00000318451.10:n.257+2T>C
ENST00000448276.6:c.401+2T>C ENSP00000392617.2:n.401+2T>C
ENST00000577686.1:n.53-202T>C
ENST00000580054.1:c.185+2T>C ENSP00000463793.1:n.185+2T>C
ENST00000584400.5:c.217-202T>C ENSP00000464503.1:n.217-202T>C
ENST00000613943.4:c.290+2T>C ENSP00000483605.1:n.290+2T>C
NM_001098426.1:c.401+2T>C NP_001091896.1:n.401+2T>C
XM_005257604.2:c.176+2T>C XP_005257661.2:n.176+2T>C
NM_001330439.1:c.176+2T>C NP_001317368.1:n.176+2T>C
NM_001330440.1:c.257+2T>C NP_001317369.1:n.257+2T>C
NM_001098426.2:c.401+2T>C MANE Select NP_001091896.1:n.401+2T>C
NM_001330440.2:c.257+2T>C NP_001317369.1:n.257+2T>C