Canonical Allele Identifier: CA400601515

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914835G>C (hg19) ; chr17:g.63837475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837475G>C , CM000679.2:g.63837475G>C	GRCh38
NC_000017.10:g.61914835G>C , CM000679.1:g.61914835G>C	GRCh37
NC_000017.9:g.59268567G>C	NCBI36
NG_053004.1:g.10517C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.255C>G
ENST00000698015.1:n.1C>G
ENST00000698016.1:c.226C>G	ENSP00000513502.1:p.Gln76Glu
ENST00000698021.1:c.30C>G
ENST00000698022.1:c.184C>G	ENSP00000513504.1:p.Gln62Glu
ENST00000698027.1:c.226C>G	ENSP00000513505.1:p.Gln76Glu
ENST00000448276.7:c.367C>G MANE Select	ENSP00000392617.2:p.Gln123Glu
ENST00000225742.13:c.142C>G	ENSP00000225742.9:p.Gln48Glu
ENST00000323347.14:c.223C>G	ENSP00000318451.10:p.Gln75Glu
ENST00000448276.6:c.367C>G	ENSP00000392617.2:p.Gln123Glu
ENST00000577686.1:n.53-238C>G
ENST00000580054.1:c.151C>G	ENSP00000463793.1:p.Gln51Glu
ENST00000584400.5:c.217-238C>G	ENSP00000464503.1:n.217-238C>G
ENST00000613943.4:c.256C>G	ENSP00000483605.1:p.Gln86Glu
NM_001098426.1:c.367C>G	NP_001091896.1:p.Gln123Glu
XM_005257604.2:c.142C>G	XP_005257661.2:p.Gln48Glu
NM_001330439.1:c.142C>G	NP_001317368.1:p.Gln48Glu
NM_001330440.1:c.223C>G	NP_001317369.1:p.Gln75Glu
NM_001098426.2:c.367C>G MANE Select	NP_001091896.1:p.Gln123Glu
NM_001330440.2:c.223C>G	NP_001317369.1:p.Gln75Glu