Canonical Allele Identifier: CA400601458

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914809C>A (hg19) ; chr17:g.63837449C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837449C>A , CM000679.2:g.63837449C>A	GRCh38
NC_000017.10:g.61914809C>A , CM000679.1:g.61914809C>A	GRCh37
NC_000017.9:g.59268541C>A	NCBI36
NG_053004.1:g.10543G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.281G>T
ENST00000698015.1:n.27G>T
ENST00000698016.1:c.252G>T	ENSP00000513502.1:p.Gln84His
ENST00000698021.1:c.56G>T
ENST00000698022.1:c.210G>T	ENSP00000513504.1:p.Gln70His
ENST00000698027.1:c.252G>T	ENSP00000513505.1:p.Gln84His
ENST00000448276.7:c.393G>T MANE Select	ENSP00000392617.2:p.Gln131His
ENST00000225742.13:c.168G>T	ENSP00000225742.9:p.Gln56His
ENST00000323347.14:c.249G>T	ENSP00000318451.10:p.Gln83His
ENST00000448276.6:c.393G>T	ENSP00000392617.2:p.Gln131His
ENST00000577686.1:n.53-212G>T
ENST00000580054.1:c.177G>T	ENSP00000463793.1:p.Gln59His
ENST00000584400.5:c.217-212G>T	ENSP00000464503.1:n.217-212G>T
ENST00000613943.4:c.282G>T	ENSP00000483605.1:p.Gln94His
NM_001098426.1:c.393G>T	NP_001091896.1:p.Gln131His
XM_005257604.2:c.168G>T	XP_005257661.2:p.Gln56His
NM_001330439.1:c.168G>T	NP_001317368.1:p.Gln56His
NM_001330440.1:c.249G>T	NP_001317369.1:p.Gln83His
NM_001098426.2:c.393G>T MANE Select	NP_001091896.1:p.Gln131His
NM_001330440.2:c.249G>T	NP_001317369.1:p.Gln83His