Canonical Allele Identifier: CA400601503

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914831G>C (hg19) ; chr17:g.63837471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837471G>C , CM000679.2:g.63837471G>C	GRCh38
NC_000017.10:g.61914831G>C , CM000679.1:g.61914831G>C	GRCh37
NC_000017.9:g.59268563G>C	NCBI36
NG_053004.1:g.10521C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.259C>G
ENST00000698015.1:n.5C>G
ENST00000698016.1:c.230C>G	ENSP00000513502.1:p.Ala77Gly
ENST00000698021.1:c.34C>G
ENST00000698022.1:c.188C>G	ENSP00000513504.1:p.Ala63Gly
ENST00000698027.1:c.230C>G	ENSP00000513505.1:p.Ala77Gly
ENST00000448276.7:c.371C>G MANE Select	ENSP00000392617.2:p.Ala124Gly
ENST00000225742.13:c.146C>G	ENSP00000225742.9:p.Ala49Gly
ENST00000323347.14:c.227C>G	ENSP00000318451.10:p.Ala76Gly
ENST00000448276.6:c.371C>G	ENSP00000392617.2:p.Ala124Gly
ENST00000577686.1:n.53-234C>G
ENST00000580054.1:c.155C>G	ENSP00000463793.1:p.Ala52Gly
ENST00000584400.5:c.217-234C>G	ENSP00000464503.1:n.217-234C>G
ENST00000613943.4:c.260C>G	ENSP00000483605.1:p.Ala87Gly
NM_001098426.1:c.371C>G	NP_001091896.1:p.Ala124Gly
XM_005257604.2:c.146C>G	XP_005257661.2:p.Ala49Gly
NM_001330439.1:c.146C>G	NP_001317368.1:p.Ala49Gly
NM_001330440.1:c.227C>G	NP_001317369.1:p.Ala76Gly
NM_001098426.2:c.371C>G MANE Select	NP_001091896.1:p.Ala124Gly
NM_001330440.2:c.227C>G	NP_001317369.1:p.Ala76Gly