Canonical Allele Identifier: CA400601624
Gene: SMARCD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837529G>T , CM000679.2:g.63837529G>T GRCh38
NC_000017.10:g.61914889G>T , CM000679.1:g.61914889G>T GRCh37
NC_000017.9:g.59268621G>T NCBI36
NG_053004.1:g.10463C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.201C>A
ENST00000698016.1:c.172C>A ENSP00000513502.1:p.Pro58Thr
ENST00000698022.1:c.130C>A ENSP00000513504.1:p.Pro44Thr
ENST00000698027.1:c.172C>A ENSP00000513505.1:p.Pro58Thr
ENST00000448276.7:c.313C>A MANE Select ENSP00000392617.2:p.Pro105Thr
ENST00000225742.13:c.88C>A ENSP00000225742.9:p.Pro30Thr
ENST00000323347.14:c.169C>A ENSP00000318451.10:p.Pro57Thr
ENST00000448276.6:c.313C>A ENSP00000392617.2:p.Pro105Thr
ENST00000577686.1:n.53-292C>A
ENST00000580054.1:c.97C>A ENSP00000463793.1:p.Pro33Thr
ENST00000584400.5:c.217-292C>A ENSP00000464503.1:n.217-292C>A
ENST00000613943.4:c.202C>A ENSP00000483605.1:p.Pro68Thr
NM_001098426.1:c.313C>A NP_001091896.1:p.Pro105Thr
XM_005257604.2:c.88C>A XP_005257661.2:p.Pro30Thr
NM_001330439.1:c.88C>A NP_001317368.1:p.Pro30Thr
NM_001330440.1:c.169C>A NP_001317369.1:p.Pro57Thr
NM_001098426.2:c.313C>A MANE Select NP_001091896.1:p.Pro105Thr
NM_001330440.2:c.169C>A NP_001317369.1:p.Pro57Thr