Canonical Allele Identifier: CA400601448

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837441-C-T
• MyVariant Identifiers: chr17:g.61914801C>T (hg19) ; chr17:g.63837441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837441C>T , CM000679.2:g.63837441C>T	GRCh38
NC_000017.10:g.61914801C>T , CM000679.1:g.61914801C>T	GRCh37
NC_000017.9:g.59268533C>T	NCBI36
NG_053004.1:g.10551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.289G>A
ENST00000698015.1:n.35G>A
ENST00000698016.1:c.260G>A	ENSP00000513502.1:p.Gly87Glu
ENST00000698021.1:c.64G>A
ENST00000698022.1:c.218G>A	ENSP00000513504.1:p.Gly73Glu
ENST00000698027.1:c.260G>A	ENSP00000513505.1:p.Gly87Glu
ENST00000448276.7:c.401G>A MANE Select	ENSP00000392617.2:p.Gly134Glu
ENST00000225742.13:c.176G>A	ENSP00000225742.9:p.Gly59Glu
ENST00000323347.14:c.257G>A	ENSP00000318451.10:p.Gly86Glu
ENST00000448276.6:c.401G>A	ENSP00000392617.2:p.Gly134Glu
ENST00000577686.1:n.53-204G>A
ENST00000580054.1:c.185G>A	ENSP00000463793.1:p.Gly62Glu
ENST00000584400.5:c.217-204G>A	ENSP00000464503.1:n.217-204G>A
ENST00000613943.4:c.290G>A	ENSP00000483605.1:p.Gly97Glu
NM_001098426.1:c.401G>A	NP_001091896.1:p.Gly134Glu
XM_005257604.2:c.176G>A	XP_005257661.2:p.Gly59Glu
NM_001330439.1:c.176G>A	NP_001317368.1:p.Gly59Glu
NM_001330440.1:c.257G>A	NP_001317369.1:p.Gly86Glu
NM_001098426.2:c.401G>A MANE Select	NP_001091896.1:p.Gly134Glu
NM_001330440.2:c.257G>A	NP_001317369.1:p.Gly86Glu