Canonical Allele Identifier: CA985418292

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040278633
• gnomAD v3: 17-63837359-C-T
• gnomAD v4: 17-63837359-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837359C>T , CM000679.2:g.63837359C>T	GRCh38
NC_000017.10:g.61914719C>T , CM000679.1:g.61914719C>T	GRCh37
NC_000017.9:g.59268451C>T	NCBI36
NG_053004.1:g.10633G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.371G>A
ENST00000698015.1:n.35+82G>A
ENST00000698016.1:c.260+82G>A	ENSP00000513502.1:n.260+82G>A
ENST00000698020.1:n.69G>A
ENST00000698021.1:c.64+82G>A
ENST00000698022.1:c.218+82G>A	ENSP00000513504.1:n.218+82G>A
ENST00000698027.1:c.260+82G>A	ENSP00000513505.1:n.260+82G>A
ENST00000448276.7:c.401+82G>A MANE Select	ENSP00000392617.2:n.401+82G>A
ENST00000225742.13:c.176+82G>A	ENSP00000225742.9:n.176+82G>A
ENST00000323347.14:c.257+82G>A	ENSP00000318451.10:n.257+82G>A
ENST00000448276.6:c.401+82G>A	ENSP00000392617.2:n.401+82G>A
ENST00000577686.1:n.53-122G>A
ENST00000580054.1:c.185+82G>A	ENSP00000463793.1:n.185+82G>A
ENST00000584400.5:c.217-122G>A	ENSP00000464503.1:n.217-122G>A
ENST00000613943.4:c.290+82G>A	ENSP00000483605.1:n.290+82G>A
NM_001098426.1:c.401+82G>A	NP_001091896.1:n.401+82G>A
XM_005257604.2:c.176+82G>A	XP_005257661.2:n.176+82G>A
NM_001330439.1:c.176+82G>A	NP_001317368.1:n.176+82G>A
NM_001330440.1:c.257+82G>A	NP_001317369.1:n.257+82G>A
NM_001098426.2:c.401+82G>A MANE Select	NP_001091896.1:n.401+82G>A
NM_001330440.2:c.257+82G>A	NP_001317369.1:n.257+82G>A