Canonical Allele Identifier: CA400601595

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914874T>G (hg19) ; chr17:g.63837514T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837514T>G , CM000679.2:g.63837514T>G	GRCh38
NC_000017.10:g.61914874T>G , CM000679.1:g.61914874T>G	GRCh37
NC_000017.9:g.59268606T>G	NCBI36
NG_053004.1:g.10478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.216A>C
ENST00000698016.1:c.187A>C	ENSP00000513502.1:p.Thr63Pro
ENST00000698022.1:c.145A>C	ENSP00000513504.1:p.Thr49Pro
ENST00000698027.1:c.187A>C	ENSP00000513505.1:p.Thr63Pro
ENST00000448276.7:c.328A>C MANE Select	ENSP00000392617.2:p.Thr110Pro
ENST00000225742.13:c.103A>C	ENSP00000225742.9:p.Thr35Pro
ENST00000323347.14:c.184A>C	ENSP00000318451.10:p.Thr62Pro
ENST00000448276.6:c.328A>C	ENSP00000392617.2:p.Thr110Pro
ENST00000577686.1:n.53-277A>C
ENST00000580054.1:c.112A>C	ENSP00000463793.1:p.Thr38Pro
ENST00000584400.5:c.217-277A>C	ENSP00000464503.1:n.217-277A>C
ENST00000613943.4:c.217A>C	ENSP00000483605.1:p.Thr73Pro
NM_001098426.1:c.328A>C	NP_001091896.1:p.Thr110Pro
XM_005257604.2:c.103A>C	XP_005257661.2:p.Thr35Pro
NM_001330439.1:c.103A>C	NP_001317368.1:p.Thr35Pro
NM_001330440.1:c.184A>C	NP_001317369.1:p.Thr62Pro
NM_001098426.2:c.328A>C MANE Select	NP_001091896.1:p.Thr110Pro
NM_001330440.2:c.184A>C	NP_001317369.1:p.Thr62Pro