Canonical Allele Identifier: CA2270105566
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837501G= , CM000679.2:g.63837501G= GRCh38
NC_000017.10:g.61914861G= , CM000679.1:g.61914861G= GRCh37
NC_000017.9:g.59268593G= NCBI36
NG_053004.1:g.10491C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.229C=
ENST00000698016.1:c.200C= ENSP00000513502.1:p.Pro67=
ENST00000698021.1:c.4C=
ENST00000698022.1:c.158C= ENSP00000513504.1:p.Pro53=
ENST00000698027.1:c.200C= ENSP00000513505.1:p.Pro67=
ENST00000448276.7:c.341C= MANE Select ENSP00000392617.2:p.Pro114=
ENST00000225742.13:c.116C= ENSP00000225742.9:p.Pro39=
ENST00000323347.14:c.197C= ENSP00000318451.10:p.Pro66=
ENST00000448276.6:c.341C= ENSP00000392617.2:p.Pro114=
ENST00000577686.1:n.53-264C=
ENST00000580054.1:c.125C= ENSP00000463793.1:p.Pro42=
ENST00000584400.5:c.217-264C= ENSP00000464503.1:n.217-264C=
ENST00000613943.4:c.230C= ENSP00000483605.1:p.Pro77=
NM_001098426.1:c.341C= NP_001091896.1:p.Pro114=
XM_005257604.2:c.116C= XP_005257661.2:p.Pro39=
NM_001330439.1:c.116C= NP_001317368.1:p.Pro39=
NM_001330440.1:c.197C= NP_001317369.1:p.Pro66=
NM_001098426.2:c.341C= MANE Select NP_001091896.1:p.Pro114=
NM_001330440.2:c.197C= NP_001317369.1:p.Pro66=