Canonical Allele Identifier: CA400601704
Gene: SMARCD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837573C>G , CM000679.2:g.63837573C>G GRCh38
NC_000017.10:g.61914933C>G , CM000679.1:g.61914933C>G GRCh37
NC_000017.9:g.59268665C>G NCBI36
NG_053004.1:g.10419G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.157G>C
ENST00000698016.1:c.128G>C ENSP00000513502.1:p.Gly43Ala
ENST00000698022.1:c.86G>C ENSP00000513504.1:p.Gly29Ala
ENST00000698027.1:c.128G>C ENSP00000513505.1:p.Gly43Ala
ENST00000448276.7:c.269G>C MANE Select ENSP00000392617.2:p.Gly90Ala
ENST00000225742.13:c.44G>C ENSP00000225742.9:p.Gly15Ala
ENST00000323347.14:c.125G>C ENSP00000318451.10:p.Gly42Ala
ENST00000448276.6:c.269G>C ENSP00000392617.2:p.Gly90Ala
ENST00000577686.1:n.53-336G>C
ENST00000580054.1:c.53G>C ENSP00000463793.1:p.Gly18Ala
ENST00000584400.5:c.217-336G>C ENSP00000464503.1:n.217-336G>C
ENST00000613943.4:c.158G>C ENSP00000483605.1:p.Gly53Ala
NM_001098426.1:c.269G>C NP_001091896.1:p.Gly90Ala
XM_005257604.2:c.44G>C XP_005257661.2:p.Gly15Ala
NM_001330439.1:c.44G>C NP_001317368.1:p.Gly15Ala
NM_001330440.1:c.125G>C NP_001317369.1:p.Gly42Ala
NM_001098426.2:c.269G>C MANE Select NP_001091896.1:p.Gly90Ala
NM_001330440.2:c.125G>C NP_001317369.1:p.Gly42Ala