Canonical Allele Identifier: CA501202257

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1204444195
• gnomAD v3: 17-63837228-C-T
• gnomAD v4: 17-63837228-C-T
• MyVariant Identifiers: chr17:g.61914588C>T (hg19) ; chr17:g.63837228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837228C>T , CM000679.2:g.63837228C>T	GRCh38
NC_000017.10:g.61914588C>T , CM000679.1:g.61914588C>T	GRCh37
NC_000017.9:g.59268320C>T	NCBI36
NG_053004.1:g.10764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.502G>A
ENST00000698015.1:n.45G>A
ENST00000698016.1:c.270G>A	ENSP00000513502.1:p.Arg90=
ENST00000698020.1:n.200G>A
ENST00000698021.1:c.74G>A
ENST00000698022.1:c.228G>A	ENSP00000513504.1:p.Arg76=
ENST00000698027.1:c.270G>A	ENSP00000513505.1:p.Arg90=
ENST00000448276.7:c.411G>A MANE Select	ENSP00000392617.2:p.Arg137=
ENST00000225742.13:c.186G>A	ENSP00000225742.9:p.Arg62=
ENST00000323347.14:c.267G>A	ENSP00000318451.10:p.Arg89=
ENST00000448276.6:c.411G>A	ENSP00000392617.2:p.Arg137=
ENST00000577686.1:n.62G>A
ENST00000580054.1:c.195G>A	ENSP00000463793.1:p.Arg65=
ENST00000584400.5:c.226G>A	ENSP00000464503.1:p.Glu76Lys
ENST00000613943.4:c.300G>A	ENSP00000483605.1:p.Arg100=
NM_001098426.1:c.411G>A	NP_001091896.1:p.Arg137=
XM_005257604.2:c.186G>A	XP_005257661.2:p.Arg62=
NM_001330439.1:c.186G>A	NP_001317368.1:p.Arg62=
NM_001330440.1:c.267G>A	NP_001317369.1:p.Arg89=
NM_001098426.2:c.411G>A MANE Select	NP_001091896.1:p.Arg137=
NM_001330440.2:c.267G>A	NP_001317369.1:p.Arg89=