Canonical Allele Identifier: CA985416059

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040199762
• gnomAD v3: 17-63832218-C-G
• gnomAD v4: 17-63832218-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832218C>G , CM000679.2:g.63832218C>G	GRCh38
NC_000017.10:g.61909578C>G , CM000679.1:g.61909578C>G	GRCh37
NC_000017.9:g.59263310C>G	NCBI36
NG_053004.1:g.15774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2595G>C
ENST00000697953.1:n.3168G>C
ENST00000698013.1:n.3280G>C
ENST00000698014.1:n.3503G>C
ENST00000698015.1:n.2596G>C
ENST00000698016.1:c.*720G>C	ENSP00000513502.1:n.*720G>C
ENST00000698017.1:n.2670G>C
ENST00000698018.1:n.2801G>C
ENST00000698019.1:n.2999G>C
ENST00000698020.1:n.2105G>C
ENST00000698021.1:c.2014G>C
ENST00000698022.1:c.*720G>C	ENSP00000513504.1:n.*720G>C
ENST00000698023.1:n.2699G>C
ENST00000698024.1:n.2561G>C
ENST00000698025.1:n.2721G>C
ENST00000698026.1:n.1612G>C
ENST00000698027.1:c.*937G>C	ENSP00000513505.1:n.*937G>C
ENST00000698028.1:n.2804G>C
ENST00000448276.7:c.*720G>C MANE Select	ENSP00000392617.2:n.*720G>C
ENST00000448276.6:c.*720G>C	ENSP00000392617.2:n.*720G>C
ENST00000613943.4:c.2205G>C	ENSP00000483605.1:n.2205G>C
NM_001098426.1:c.*720G>C	NP_001091896.1:n.*720G>C
XM_005257604.2:c.*720G>C	XP_005257661.2:n.*720G>C
NM_001330439.1:c.*720G>C	NP_001317368.1:n.*720G>C
NM_001330440.1:c.*720G>C	NP_001317369.1:n.*720G>C
NM_001098426.2:c.*720G>C MANE Select	NP_001091896.1:n.*720G>C
NM_001330440.2:c.*720G>C	NP_001317369.1:n.*720G>C