Canonical Allele Identifier: CA2639298367

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832456-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832456G>A , CM000679.2:g.63832456G>A	GRCh38
NC_000017.10:g.61909816G>A , CM000679.1:g.61909816G>A	GRCh37
NC_000017.9:g.59263548G>A	NCBI36
NG_053004.1:g.15536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2357C>T
ENST00000697953.1:n.2930C>T
ENST00000698013.1:n.3042C>T
ENST00000698014.1:n.3265C>T
ENST00000698015.1:n.2358C>T
ENST00000698016.1:c.*482C>T	ENSP00000513502.1:n.*482C>T
ENST00000698017.1:n.2432C>T
ENST00000698018.1:n.2563C>T
ENST00000698019.1:n.2761C>T
ENST00000698020.1:n.1867C>T
ENST00000698021.1:c.1776C>T
ENST00000698022.1:c.*482C>T	ENSP00000513504.1:n.*482C>T
ENST00000698023.1:n.2461C>T
ENST00000698024.1:n.2323C>T
ENST00000698025.1:n.2483C>T
ENST00000698026.1:n.1374C>T
ENST00000698027.1:c.*699C>T	ENSP00000513505.1:n.*699C>T
ENST00000698028.1:n.2566C>T
ENST00000698029.1:n.3295C>T
ENST00000448276.7:c.*482C>T MANE Select	ENSP00000392617.2:n.*482C>T
ENST00000448276.6:c.*482C>T	ENSP00000392617.2:n.*482C>T
ENST00000613943.4:c.1967C>T	ENSP00000483605.1:n.1967C>T
NM_001098426.1:c.*482C>T	NP_001091896.1:n.*482C>T
XM_005257604.2:c.*482C>T	XP_005257661.2:n.*482C>T
NM_001330439.1:c.*482C>T	NP_001317368.1:n.*482C>T
NM_001330440.1:c.*482C>T	NP_001317369.1:n.*482C>T
NM_001098426.2:c.*482C>T MANE Select	NP_001091896.1:n.*482C>T
NM_001330440.2:c.*482C>T	NP_001317369.1:n.*482C>T