Canonical Allele Identifier: CA400601571
Gene: SMARCD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837505C>G , CM000679.2:g.63837505C>G GRCh38
NC_000017.10:g.61914865C>G , CM000679.1:g.61914865C>G GRCh37
NC_000017.9:g.59268597C>G NCBI36
NG_053004.1:g.10487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.225G>C
ENST00000698016.1:c.196G>C ENSP00000513502.1:p.Asp66His
ENST00000698022.1:c.154G>C ENSP00000513504.1:p.Asp52His
ENST00000698027.1:c.196G>C ENSP00000513505.1:p.Asp66His
ENST00000448276.7:c.337G>C MANE Select ENSP00000392617.2:p.Asp113His
ENST00000225742.13:c.112G>C ENSP00000225742.9:p.Asp38His
ENST00000323347.14:c.193G>C ENSP00000318451.10:p.Asp65His
ENST00000448276.6:c.337G>C ENSP00000392617.2:p.Asp113His
ENST00000577686.1:n.53-268G>C
ENST00000580054.1:c.121G>C ENSP00000463793.1:p.Asp41His
ENST00000584400.5:c.217-268G>C ENSP00000464503.1:n.217-268G>C
ENST00000613943.4:c.226G>C ENSP00000483605.1:p.Asp76His
NM_001098426.1:c.337G>C NP_001091896.1:p.Asp113His
XM_005257604.2:c.112G>C XP_005257661.2:p.Asp38His
NM_001330439.1:c.112G>C NP_001317368.1:p.Asp38His
NM_001330440.1:c.193G>C NP_001317369.1:p.Asp65His
NM_001098426.2:c.337G>C MANE Select NP_001091896.1:p.Asp113His
NM_001330440.2:c.193G>C NP_001317369.1:p.Asp65His