Canonical Allele Identifier: CA2639297960

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832093-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832093G>T , CM000679.2:g.63832093G>T	GRCh38
NC_000017.10:g.61909453G>T , CM000679.1:g.61909453G>T	GRCh37
NC_000017.9:g.59263185G>T	NCBI36
NG_053004.1:g.15899C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3293C>A
ENST00000698013.1:n.3405C>A
ENST00000698014.1:n.3628C>A
ENST00000698015.1:n.2721C>A
ENST00000698016.1:c.*845C>A	ENSP00000513502.1:n.*845C>A
ENST00000698017.1:n.2795C>A
ENST00000448276.7:c.*845C>A MANE Select	ENSP00000392617.2:n.*845C>A
ENST00000448276.6:c.*845C>A	ENSP00000392617.2:n.*845C>A
ENST00000613943.4:c.2330C>A	ENSP00000483605.1:n.2330C>A
NM_001098426.1:c.*845C>A	NP_001091896.1:n.*845C>A
XM_005257604.2:c.*845C>A	XP_005257661.2:n.*845C>A
NM_001330439.1:c.*845C>A	NP_001317368.1:n.*845C>A
NM_001330440.1:c.*845C>A	NP_001317369.1:n.*845C>A
NM_001098426.2:c.*845C>A MANE Select	NP_001091896.1:n.*845C>A
NM_001330440.2:c.*845C>A	NP_001317369.1:n.*845C>A