Canonical Allele Identifier: CA292954615

Gene: SMARCD2

Linked Data

• dbSNP Id: rs999882827
• gnomAD v4: 17-63837350-C-T
• MyVariant Identifiers: chr17:g.61914710C>T (hg19) ; chr17:g.63837350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837350C>T , CM000679.2:g.63837350C>T	GRCh38
NC_000017.10:g.61914710C>T , CM000679.1:g.61914710C>T	GRCh37
NC_000017.9:g.59268442C>T	NCBI36
NG_053004.1:g.10642G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.380G>A
ENST00000698015.1:n.35+91G>A
ENST00000698016.1:c.260+91G>A	ENSP00000513502.1:n.260+91G>A
ENST00000698020.1:n.78G>A
ENST00000698021.1:c.64+91G>A
ENST00000698022.1:c.218+91G>A	ENSP00000513504.1:n.218+91G>A
ENST00000698027.1:c.260+91G>A	ENSP00000513505.1:n.260+91G>A
ENST00000448276.7:c.401+91G>A MANE Select	ENSP00000392617.2:n.401+91G>A
ENST00000225742.13:c.176+91G>A	ENSP00000225742.9:n.176+91G>A
ENST00000323347.14:c.257+91G>A	ENSP00000318451.10:n.257+91G>A
ENST00000448276.6:c.401+91G>A	ENSP00000392617.2:n.401+91G>A
ENST00000577686.1:n.53-113G>A
ENST00000580054.1:c.185+91G>A	ENSP00000463793.1:n.185+91G>A
ENST00000584400.5:c.217-113G>A	ENSP00000464503.1:n.217-113G>A
ENST00000613943.4:c.290+91G>A	ENSP00000483605.1:n.290+91G>A
NM_001098426.1:c.401+91G>A	NP_001091896.1:n.401+91G>A
XM_005257604.2:c.176+91G>A	XP_005257661.2:n.176+91G>A
NM_001330439.1:c.176+91G>A	NP_001317368.1:n.176+91G>A
NM_001330440.1:c.257+91G>A	NP_001317369.1:n.257+91G>A
NM_001098426.2:c.401+91G>A MANE Select	NP_001091896.1:n.401+91G>A
NM_001330440.2:c.257+91G>A	NP_001317369.1:n.257+91G>A