Canonical Allele Identifier: CA2270103005

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040197703
• gnomAD v4: 17-63832110-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832110T>C , CM000679.2:g.63832110T>C	GRCh38
NC_000017.10:g.61909470T>C , CM000679.1:g.61909470T>C	GRCh37
NC_000017.9:g.59263202T>C	NCBI36
NG_053004.1:g.15882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3276A>G
ENST00000698013.1:n.3388A>G
ENST00000698014.1:n.3611A>G
ENST00000698015.1:n.2704A>G
ENST00000698016.1:c.*828A>G	ENSP00000513502.1:n.*828A>G
ENST00000698017.1:n.2778A>G
ENST00000698018.1:n.2909A>G
ENST00000698019.1:n.3107A>G
ENST00000698020.1:n.2213A>G
ENST00000698021.1:c.2122A>G
ENST00000698022.1:c.*828A>G	ENSP00000513504.1:n.*828A>G
ENST00000698023.1:n.2807A>G
ENST00000698024.1:n.2669A>G
ENST00000448276.7:c.*828A>G MANE Select	ENSP00000392617.2:n.*828A>G
ENST00000448276.6:c.*828A>G	ENSP00000392617.2:n.*828A>G
ENST00000613943.4:c.2313A>G	ENSP00000483605.1:n.2313A>G
NM_001098426.1:c.*828A>G	NP_001091896.1:n.*828A>G
XM_005257604.2:c.*828A>G	XP_005257661.2:n.*828A>G
NM_001330439.1:c.*828A>G	NP_001317368.1:n.*828A>G
NM_001330440.1:c.*828A>G	NP_001317369.1:n.*828A>G
NM_001098426.2:c.*828A>G MANE Select	NP_001091896.1:n.*828A>G
NM_001330440.2:c.*828A>G	NP_001317369.1:n.*828A>G