Canonical Allele Identifier: CA8706519

Gene: SMARCD2

Linked Data

• dbSNP Id: rs765542823
• ExAC: 17:61914837 G / C
• gnomAD v2: 17-61914837-G-C
• MyVariant Identifiers: chr17:g.61914837G>C (hg19) ; chr17:g.63837477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837477G>C , CM000679.2:g.63837477G>C	GRCh38
NC_000017.10:g.61914837G>C , CM000679.1:g.61914837G>C	GRCh37
NC_000017.9:g.59268569G>C	NCBI36
NG_053004.1:g.10515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.253C>G
ENST00000698016.1:c.224C>G	ENSP00000513502.1:p.Pro75Arg
ENST00000698021.1:c.28C>G
ENST00000698022.1:c.182C>G	ENSP00000513504.1:p.Pro61Arg
ENST00000698027.1:c.224C>G	ENSP00000513505.1:p.Pro75Arg
ENST00000448276.7:c.365C>G MANE Select	ENSP00000392617.2:p.Pro122Arg
ENST00000225742.13:c.140C>G	ENSP00000225742.9:p.Pro47Arg
ENST00000323347.14:c.221C>G	ENSP00000318451.10:p.Pro74Arg
ENST00000448276.6:c.365C>G	ENSP00000392617.2:p.Pro122Arg
ENST00000577686.1:n.53-240C>G
ENST00000580054.1:c.149C>G	ENSP00000463793.1:p.Pro50Arg
ENST00000584400.5:c.217-240C>G	ENSP00000464503.1:n.217-240C>G
ENST00000613943.4:c.254C>G	ENSP00000483605.1:p.Pro85Arg
NM_001098426.1:c.365C>G	NP_001091896.1:p.Pro122Arg
XM_005257604.2:c.140C>G	XP_005257661.2:p.Pro47Arg
NM_001330439.1:c.140C>G	NP_001317368.1:p.Pro47Arg
NM_001330440.1:c.221C>G	NP_001317369.1:p.Pro74Arg
NM_001098426.2:c.365C>G MANE Select	NP_001091896.1:p.Pro122Arg
NM_001330440.2:c.221C>G	NP_001317369.1:p.Pro74Arg