Canonical Allele Identifier: CA400601351

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1161229255
• gnomAD v2: 17-61914562-G-C
• gnomAD v4: 17-63837202-G-C
• MyVariant Identifiers: chr17:g.61914562G>C (hg19) ; chr17:g.63837202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837202G>C , CM000679.2:g.63837202G>C	GRCh38
NC_000017.10:g.61914562G>C , CM000679.1:g.61914562G>C	GRCh37
NC_000017.9:g.59268294G>C	NCBI36
NG_053004.1:g.10790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.528C>G
ENST00000698015.1:n.71C>G
ENST00000698016.1:c.296C>G	ENSP00000513502.1:p.Pro99Arg
ENST00000698020.1:n.226C>G
ENST00000698021.1:c.100C>G
ENST00000698022.1:c.254C>G	ENSP00000513504.1:p.Pro85Arg
ENST00000698027.1:c.296C>G	ENSP00000513505.1:p.Pro99Arg
ENST00000448276.7:c.437C>G MANE Select	ENSP00000392617.2:p.Pro146Arg
ENST00000225742.13:c.212C>G	ENSP00000225742.9:p.Pro71Arg
ENST00000323347.14:c.293C>G	ENSP00000318451.10:p.Pro98Arg
ENST00000448276.6:c.437C>G	ENSP00000392617.2:p.Pro146Arg
ENST00000577686.1:n.88C>G
ENST00000580054.1:c.221C>G	ENSP00000463793.1:p.Pro74Arg
ENST00000584400.5:c.*9C>G	ENSP00000464503.1:n.*9C>G
ENST00000613943.4:c.326C>G	ENSP00000483605.1:p.Pro109Arg
NM_001098426.1:c.437C>G	NP_001091896.1:p.Pro146Arg
XM_005257604.2:c.212C>G	XP_005257661.2:p.Pro71Arg
NM_001330439.1:c.212C>G	NP_001317368.1:p.Pro71Arg
NM_001330440.1:c.293C>G	NP_001317369.1:p.Pro98Arg
NM_001098426.2:c.437C>G MANE Select	NP_001091896.1:p.Pro146Arg
NM_001330440.2:c.293C>G	NP_001317369.1:p.Pro98Arg