Canonical Allele Identifier: CA400601460

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914810T>A (hg19) ; chr17:g.63837450T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837450T>A , CM000679.2:g.63837450T>A	GRCh38
NC_000017.10:g.61914810T>A , CM000679.1:g.61914810T>A	GRCh37
NC_000017.9:g.59268542T>A	NCBI36
NG_053004.1:g.10542A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.280A>T
ENST00000698015.1:n.26A>T
ENST00000698016.1:c.251A>T	ENSP00000513502.1:p.Gln84Leu
ENST00000698021.1:c.55A>T
ENST00000698022.1:c.209A>T	ENSP00000513504.1:p.Gln70Leu
ENST00000698027.1:c.251A>T	ENSP00000513505.1:p.Gln84Leu
ENST00000448276.7:c.392A>T MANE Select	ENSP00000392617.2:p.Gln131Leu
ENST00000225742.13:c.167A>T	ENSP00000225742.9:p.Gln56Leu
ENST00000323347.14:c.248A>T	ENSP00000318451.10:p.Gln83Leu
ENST00000448276.6:c.392A>T	ENSP00000392617.2:p.Gln131Leu
ENST00000577686.1:n.53-213A>T
ENST00000580054.1:c.176A>T	ENSP00000463793.1:p.Gln59Leu
ENST00000584400.5:c.217-213A>T	ENSP00000464503.1:n.217-213A>T
ENST00000613943.4:c.281A>T	ENSP00000483605.1:p.Gln94Leu
NM_001098426.1:c.392A>T	NP_001091896.1:p.Gln131Leu
XM_005257604.2:c.167A>T	XP_005257661.2:p.Gln56Leu
NM_001330439.1:c.167A>T	NP_001317368.1:p.Gln56Leu
NM_001330440.1:c.248A>T	NP_001317369.1:p.Gln83Leu
NM_001098426.2:c.392A>T MANE Select	NP_001091896.1:p.Gln131Leu
NM_001330440.2:c.248A>T	NP_001317369.1:p.Gln83Leu