Canonical Allele Identifier: CA8706502

Gene: SMARCD2

Linked Data

• dbSNP Id: rs752673840
• ExAC: 17:61914753 AC / A
• gnomAD v2: 17-61914753-AC-A
• gnomAD v3: 17-63837393-AC-A
• gnomAD v4: 17-63837393-AC-A
• MyVariant Identifiers: chr17:g.61914754del (hg19) ; chr17:g.63837394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837395del , CM000679.2:g.63837395del	GRCh38
NC_000017.10:g.61914755del , CM000679.1:g.61914755del	GRCh37
NC_000017.9:g.59268487del	NCBI36
NG_053004.1:g.10598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.336del
ENST00000698015.1:n.35+47del
ENST00000698016.1:c.260+47del	ENSP00000513502.1:n.260+47del
ENST00000698020.1:n.34del
ENST00000698021.1:c.64+47del
ENST00000698022.1:c.218+47del	ENSP00000513504.1:n.218+47del
ENST00000698027.1:c.260+47del	ENSP00000513505.1:n.260+47del
ENST00000448276.7:c.401+47del MANE Select	ENSP00000392617.2:n.401+47del
ENST00000225742.13:c.176+47del	ENSP00000225742.9:n.176+47del
ENST00000323347.14:c.257+47del	ENSP00000318451.10:n.257+47del
ENST00000448276.6:c.401+47del	ENSP00000392617.2:n.401+47del
ENST00000577686.1:n.53-157del
ENST00000580054.1:c.185+47del	ENSP00000463793.1:n.185+47del
ENST00000584400.5:c.217-157del	ENSP00000464503.1:n.217-157del
ENST00000613943.4:c.290+47del	ENSP00000483605.1:n.290+47del
NM_001098426.1:c.401+47del	NP_001091896.1:n.401+47del
XM_005257604.2:c.176+47del	XP_005257661.2:n.176+47del
NM_001330439.1:c.176+47del	NP_001317368.1:n.176+47del
NM_001330440.1:c.257+47del	NP_001317369.1:n.257+47del
NM_001098426.2:c.401+47del MANE Select	NP_001091896.1:n.401+47del
NM_001330440.2:c.257+47del	NP_001317369.1:n.257+47del