Canonical Allele Identifier: CA400601462

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1349148791
• gnomAD v2: 17-61914810-T-G
• gnomAD v4: 17-63837450-T-G
• MyVariant Identifiers: chr17:g.61914810T>G (hg19) ; chr17:g.63837450T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.280A>C
ENST00000698015.1:n.26A>C
ENST00000698016.1:c.251A>C	ENSP00000513502.1:p.Gln84Pro
ENST00000698021.1:c.55A>C
ENST00000698022.1:c.209A>C	ENSP00000513504.1:p.Gln70Pro
ENST00000698027.1:c.251A>C	ENSP00000513505.1:p.Gln84Pro
ENST00000448276.7:c.392A>C MANE Select	ENSP00000392617.2:p.Gln131Pro
ENST00000225742.13:c.167A>C	ENSP00000225742.9:p.Gln56Pro
ENST00000323347.14:c.248A>C	ENSP00000318451.10:p.Gln83Pro
ENST00000448276.6:c.392A>C	ENSP00000392617.2:p.Gln131Pro
ENST00000577686.1:n.53-213A>C
ENST00000580054.1:c.176A>C	ENSP00000463793.1:p.Gln59Pro
ENST00000584400.5:c.217-213A>C	ENSP00000464503.1:n.217-213A>C
ENST00000613943.4:c.281A>C	ENSP00000483605.1:p.Gln94Pro
NM_001098426.1:c.392A>C	NP_001091896.1:p.Gln131Pro
XM_005257604.2:c.167A>C	XP_005257661.2:p.Gln56Pro
NM_001330439.1:c.167A>C	NP_001317368.1:p.Gln56Pro
NM_001330440.1:c.248A>C	NP_001317369.1:p.Gln83Pro
NM_001098426.2:c.392A>C MANE Select	NP_001091896.1:p.Gln131Pro
NM_001330440.2:c.248A>C	NP_001317369.1:p.Gln83Pro