Canonical Allele Identifier: CA292954745

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 2202828
• ClinVar RCV Id: RCV002648191 ; RCV002648192
• dbSNP Id: rs762396735
• gnomAD v2: 17-61914864-T-G
• gnomAD v3: 17-63837504-T-G
• gnomAD v4: 17-63837504-T-G
• MyVariant Identifiers: chr17:g.61914864T>G (hg19) ; chr17:g.63837504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837504T>G , CM000679.2:g.63837504T>G	GRCh38
NC_000017.10:g.61914864T>G , CM000679.1:g.61914864T>G	GRCh37
NC_000017.9:g.59268596T>G	NCBI36
NG_053004.1:g.10488A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.226A>C
ENST00000698016.1:c.197A>C	ENSP00000513502.1:p.Asp66Ala
ENST00000698021.1:c.1A>C
ENST00000698022.1:c.155A>C	ENSP00000513504.1:p.Asp52Ala
ENST00000698027.1:c.197A>C	ENSP00000513505.1:p.Asp66Ala
ENST00000448276.7:c.338A>C MANE Select	ENSP00000392617.2:p.Asp113Ala
ENST00000225742.13:c.113A>C	ENSP00000225742.9:p.Asp38Ala
ENST00000323347.14:c.194A>C	ENSP00000318451.10:p.Asp65Ala
ENST00000448276.6:c.338A>C	ENSP00000392617.2:p.Asp113Ala
ENST00000577686.1:n.53-267A>C
ENST00000580054.1:c.122A>C	ENSP00000463793.1:p.Asp41Ala
ENST00000584400.5:c.217-267A>C	ENSP00000464503.1:n.217-267A>C
ENST00000613943.4:c.227A>C	ENSP00000483605.1:p.Asp76Ala
NM_001098426.1:c.338A>C	NP_001091896.1:p.Asp113Ala
XM_005257604.2:c.113A>C	XP_005257661.2:p.Asp38Ala
NM_001330439.1:c.113A>C	NP_001317368.1:p.Asp38Ala
NM_001330440.1:c.194A>C	NP_001317369.1:p.Asp65Ala
NM_001098426.2:c.338A>C MANE Select	NP_001091896.1:p.Asp113Ala
NM_001330440.2:c.194A>C	NP_001317369.1:p.Asp65Ala