Canonical Allele Identifier: CA985416028

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040197561
• gnomAD v3: 17-63832103-G-A
• gnomAD v4: 17-63832103-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832103G>A , CM000679.2:g.63832103G>A	GRCh38
NC_000017.10:g.61909463G>A , CM000679.1:g.61909463G>A	GRCh37
NC_000017.9:g.59263195G>A	NCBI36
NG_053004.1:g.15889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3283C>T
ENST00000698013.1:n.3395C>T
ENST00000698014.1:n.3618C>T
ENST00000698015.1:n.2711C>T
ENST00000698016.1:c.*835C>T	ENSP00000513502.1:n.*835C>T
ENST00000698017.1:n.2785C>T
ENST00000698018.1:n.2916C>T
ENST00000698019.1:n.3114C>T
ENST00000698020.1:n.2220C>T
ENST00000698021.1:c.2129C>T
ENST00000698022.1:c.*835C>T	ENSP00000513504.1:n.*835C>T
ENST00000698023.1:n.2814C>T
ENST00000698024.1:n.2676C>T
ENST00000448276.7:c.*835C>T MANE Select	ENSP00000392617.2:n.*835C>T
ENST00000448276.6:c.*835C>T	ENSP00000392617.2:n.*835C>T
ENST00000613943.4:c.2320C>T	ENSP00000483605.1:n.2320C>T
NM_001098426.1:c.*835C>T	NP_001091896.1:n.*835C>T
XM_005257604.2:c.*835C>T	XP_005257661.2:n.*835C>T
NM_001330439.1:c.*835C>T	NP_001317368.1:n.*835C>T
NM_001330440.1:c.*835C>T	NP_001317369.1:n.*835C>T
NM_001098426.2:c.*835C>T MANE Select	NP_001091896.1:n.*835C>T
NM_001330440.2:c.*835C>T	NP_001317369.1:n.*835C>T