Canonical Allele Identifier: CA2639298069

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832172-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832172A>G , CM000679.2:g.63832172A>G	GRCh38
NC_000017.10:g.61909532A>G , CM000679.1:g.61909532A>G	GRCh37
NC_000017.9:g.59263264A>G	NCBI36
NG_053004.1:g.15820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2641T>C
ENST00000697953.1:n.3214T>C
ENST00000698013.1:n.3326T>C
ENST00000698014.1:n.3549T>C
ENST00000698015.1:n.2642T>C
ENST00000698016.1:c.*766T>C	ENSP00000513502.1:n.*766T>C
ENST00000698017.1:n.2716T>C
ENST00000698018.1:n.2847T>C
ENST00000698019.1:n.3045T>C
ENST00000698020.1:n.2151T>C
ENST00000698021.1:c.2060T>C
ENST00000698022.1:c.*766T>C	ENSP00000513504.1:n.*766T>C
ENST00000698023.1:n.2745T>C
ENST00000698024.1:n.2607T>C
ENST00000698025.1:n.2767T>C
ENST00000698026.1:n.1658T>C
ENST00000698027.1:c.*983T>C	ENSP00000513505.1:n.*983T>C
ENST00000448276.7:c.*766T>C MANE Select	ENSP00000392617.2:n.*766T>C
ENST00000448276.6:c.*766T>C	ENSP00000392617.2:n.*766T>C
ENST00000613943.4:c.2251T>C	ENSP00000483605.1:n.2251T>C
NM_001098426.1:c.*766T>C	NP_001091896.1:n.*766T>C
XM_005257604.2:c.*766T>C	XP_005257661.2:n.*766T>C
NM_001330439.1:c.*766T>C	NP_001317368.1:n.*766T>C
NM_001330440.1:c.*766T>C	NP_001317369.1:n.*766T>C
NM_001098426.2:c.*766T>C MANE Select	NP_001091896.1:n.*766T>C
NM_001330440.2:c.*766T>C	NP_001317369.1:n.*766T>C