Canonical Allele Identifier: CA501202341

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 1392982
• ClinVar RCV Id: RCV001896495
• dbSNP Id: rs1162508392
• gnomAD v2: 17-61914860-T-C
• gnomAD v3: 17-63837500-T-C
• gnomAD v4: 17-63837500-T-C
• MyVariant Identifiers: chr17:g.61914860T>C (hg19) ; chr17:g.63837500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837500T>C , CM000679.2:g.63837500T>C	GRCh38
NC_000017.10:g.61914860T>C , CM000679.1:g.61914860T>C	GRCh37
NC_000017.9:g.59268592T>C	NCBI36
NG_053004.1:g.10492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.230A>G
ENST00000698016.1:c.201A>G	ENSP00000513502.1:p.Pro67=
ENST00000698021.1:c.5A>G
ENST00000698022.1:c.159A>G	ENSP00000513504.1:p.Pro53=
ENST00000698027.1:c.201A>G	ENSP00000513505.1:p.Pro67=
ENST00000448276.7:c.342A>G MANE Select	ENSP00000392617.2:p.Pro114=
ENST00000225742.13:c.117A>G	ENSP00000225742.9:p.Pro39=
ENST00000323347.14:c.198A>G	ENSP00000318451.10:p.Pro66=
ENST00000448276.6:c.342A>G	ENSP00000392617.2:p.Pro114=
ENST00000577686.1:n.53-263A>G
ENST00000580054.1:c.126A>G	ENSP00000463793.1:p.Pro42=
ENST00000584400.5:c.217-263A>G	ENSP00000464503.1:n.217-263A>G
ENST00000613943.4:c.231A>G	ENSP00000483605.1:p.Pro77=
NM_001098426.1:c.342A>G	NP_001091896.1:p.Pro114=
XM_005257604.2:c.117A>G	XP_005257661.2:p.Pro39=
NM_001330439.1:c.117A>G	NP_001317368.1:p.Pro39=
NM_001330440.1:c.198A>G	NP_001317369.1:p.Pro66=
NM_001098426.2:c.342A>G MANE Select	NP_001091896.1:p.Pro114=
NM_001330440.2:c.198A>G	NP_001317369.1:p.Pro66=