Canonical Allele Identifier: CA985418304

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040279272
• gnomAD v3: 17-63837411-G-A
• gnomAD v4: 17-63837411-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837411G>A , CM000679.2:g.63837411G>A	GRCh38
NC_000017.10:g.61914771G>A , CM000679.1:g.61914771G>A	GRCh37
NC_000017.9:g.59268503G>A	NCBI36
NG_053004.1:g.10581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.319C>T
ENST00000698015.1:n.35+30C>T
ENST00000698016.1:c.260+30C>T	ENSP00000513502.1:n.260+30C>T
ENST00000698020.1:n.17C>T
ENST00000698021.1:c.64+30C>T
ENST00000698022.1:c.218+30C>T	ENSP00000513504.1:n.218+30C>T
ENST00000698027.1:c.260+30C>T	ENSP00000513505.1:n.260+30C>T
ENST00000448276.7:c.401+30C>T MANE Select	ENSP00000392617.2:n.401+30C>T
ENST00000225742.13:c.176+30C>T	ENSP00000225742.9:n.176+30C>T
ENST00000323347.14:c.257+30C>T	ENSP00000318451.10:n.257+30C>T
ENST00000448276.6:c.401+30C>T	ENSP00000392617.2:n.401+30C>T
ENST00000577686.1:n.53-174C>T
ENST00000580054.1:c.185+30C>T	ENSP00000463793.1:n.185+30C>T
ENST00000584400.5:c.217-174C>T	ENSP00000464503.1:n.217-174C>T
ENST00000613943.4:c.290+30C>T	ENSP00000483605.1:n.290+30C>T
NM_001098426.1:c.401+30C>T	NP_001091896.1:n.401+30C>T
XM_005257604.2:c.176+30C>T	XP_005257661.2:n.176+30C>T
NM_001330439.1:c.176+30C>T	NP_001317368.1:n.176+30C>T
NM_001330440.1:c.257+30C>T	NP_001317369.1:n.257+30C>T
NM_001098426.2:c.401+30C>T MANE Select	NP_001091896.1:n.401+30C>T
NM_001330440.2:c.257+30C>T	NP_001317369.1:n.257+30C>T