Canonical Allele Identifier: CA400601626

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 2748302
• ClinVar RCV Id: RCV003565932
• dbSNP Id: rs1339630793
• gnomAD v2: 17-61914892-G-A
• gnomAD v4: 17-63837532-G-A
• COSMIC: COSM5484141 ; COSM5484142 ; COSM5484143
• MyVariant Identifiers: chr17:g.61914892G>A (hg19) ; chr17:g.63837532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837532G>A , CM000679.2:g.63837532G>A	GRCh38
NC_000017.10:g.61914892G>A , CM000679.1:g.61914892G>A	GRCh37
NC_000017.9:g.59268624G>A	NCBI36
NG_053004.1:g.10460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.198C>T
ENST00000698016.1:c.169C>T	ENSP00000513502.1:p.Arg57Ter
ENST00000698022.1:c.127C>T	ENSP00000513504.1:p.Arg43Ter
ENST00000698027.1:c.169C>T	ENSP00000513505.1:p.Arg57Ter
ENST00000448276.7:c.310C>T MANE Select	ENSP00000392617.2:p.Arg104Ter
ENST00000225742.13:c.85C>T	ENSP00000225742.9:p.Arg29Ter
ENST00000323347.14:c.166C>T	ENSP00000318451.10:p.Arg56Ter
ENST00000448276.6:c.310C>T	ENSP00000392617.2:p.Arg104Ter
ENST00000577686.1:n.53-295C>T
ENST00000580054.1:c.94C>T	ENSP00000463793.1:p.Arg32Ter
ENST00000584400.5:c.217-295C>T	ENSP00000464503.1:n.217-295C>T
ENST00000613943.4:c.199C>T	ENSP00000483605.1:p.Arg67Ter
NM_001098426.1:c.310C>T	NP_001091896.1:p.Arg104Ter
XM_005257604.2:c.85C>T	XP_005257661.2:p.Arg29Ter
NM_001330439.1:c.85C>T	NP_001317368.1:p.Arg29Ter
NM_001330440.1:c.166C>T	NP_001317369.1:p.Arg56Ter
NM_001098426.2:c.310C>T MANE Select	NP_001091896.1:p.Arg104Ter
NM_001330440.2:c.166C>T	NP_001317369.1:p.Arg56Ter