Canonical Allele Identifier: CA501202292
Gene: SMARCD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.61914824A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837464A>C , CM000679.2:g.63837464A>C GRCh38
NC_000017.10:g.61914824A>C , CM000679.1:g.61914824A>C GRCh37
NC_000017.9:g.59268556A>C NCBI36
NG_053004.1:g.10528T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.266T>G
ENST00000698015.1:n.12T>G
ENST00000698016.1:c.237T>G ENSP00000513502.1:p.Pro79=
ENST00000698021.1:c.41T>G
ENST00000698022.1:c.195T>G ENSP00000513504.1:p.Pro65=
ENST00000698027.1:c.237T>G ENSP00000513505.1:p.Pro79=
ENST00000448276.7:c.378T>G MANE Select ENSP00000392617.2:p.Pro126=
ENST00000225742.13:c.153T>G ENSP00000225742.9:p.Pro51=
ENST00000323347.14:c.234T>G ENSP00000318451.10:p.Pro78=
ENST00000448276.6:c.378T>G ENSP00000392617.2:p.Pro126=
ENST00000577686.1:n.53-227T>G
ENST00000580054.1:c.162T>G ENSP00000463793.1:p.Pro54=
ENST00000584400.5:c.217-227T>G ENSP00000464503.1:n.217-227T>G
ENST00000613943.4:c.267T>G ENSP00000483605.1:p.Pro89=
NM_001098426.1:c.378T>G NP_001091896.1:p.Pro126=
XM_005257604.2:c.153T>G XP_005257661.2:p.Pro51=
NM_001330439.1:c.153T>G NP_001317368.1:p.Pro51=
NM_001330440.1:c.234T>G NP_001317369.1:p.Pro78=
NM_001098426.2:c.378T>G MANE Select NP_001091896.1:p.Pro126=
NM_001330440.2:c.234T>G NP_001317369.1:p.Pro78=