Canonical Allele Identifier: CA400601511

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914834T>C (hg19) ; chr17:g.63837474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837474T>C , CM000679.2:g.63837474T>C	GRCh38
NC_000017.10:g.61914834T>C , CM000679.1:g.61914834T>C	GRCh37
NC_000017.9:g.59268566T>C	NCBI36
NG_053004.1:g.10518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.256A>G
ENST00000698015.1:n.2A>G
ENST00000698016.1:c.227A>G	ENSP00000513502.1:p.Gln76Arg
ENST00000698021.1:c.31A>G
ENST00000698022.1:c.185A>G	ENSP00000513504.1:p.Gln62Arg
ENST00000698027.1:c.227A>G	ENSP00000513505.1:p.Gln76Arg
ENST00000448276.7:c.368A>G MANE Select	ENSP00000392617.2:p.Gln123Arg
ENST00000225742.13:c.143A>G	ENSP00000225742.9:p.Gln48Arg
ENST00000323347.14:c.224A>G	ENSP00000318451.10:p.Gln75Arg
ENST00000448276.6:c.368A>G	ENSP00000392617.2:p.Gln123Arg
ENST00000577686.1:n.53-237A>G
ENST00000580054.1:c.152A>G	ENSP00000463793.1:p.Gln51Arg
ENST00000584400.5:c.217-237A>G	ENSP00000464503.1:n.217-237A>G
ENST00000613943.4:c.257A>G	ENSP00000483605.1:p.Gln86Arg
NM_001098426.1:c.368A>G	NP_001091896.1:p.Gln123Arg
XM_005257604.2:c.143A>G	XP_005257661.2:p.Gln48Arg
NM_001330439.1:c.143A>G	NP_001317368.1:p.Gln48Arg
NM_001330440.1:c.224A>G	NP_001317369.1:p.Gln75Arg
NM_001098426.2:c.368A>G MANE Select	NP_001091896.1:p.Gln123Arg
NM_001330440.2:c.224A>G	NP_001317369.1:p.Gln75Arg