Canonical Allele Identifier: CA985416035

Gene: SMARCD2

Linked Data

• gnomAD v3: 17-63832125-T-TGGCACTCGCCAAGCCCTAGGCCCACCCTCCTCACCAAGCTCCAAAGGGCTTGCCAGAA
• gnomAD v4: 17-63832125-T-TGGCACTCGCCAAGCCCTAGGCCCACCCTCCTCACCAAGCTCCAAAGGGCTTGCCAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832126_63832127insGCACTCGCCAAGCCCTAGGCCCACCCTCCTCACCAAGCTCCAAAGGGCTTGCCAGAAG , CM000679.2:g.63832126_63832127insGCACTCGCCAAGCCCTAGGCCCACCCTCCTCACCAAGCTCCAAAGGGCTTGCCAGAAG	GRCh38
NC_000017.10:g.61909486_61909487insGCACTCGCCAAGCCCTAGGCCCACCCTCCTCACCAAGCTCCAAAGGGCTTGCCAGAAG , CM000679.1:g.61909486_61909487insGCACTCGCCAAGCCCTAGGCCCACCCTCCTCACCAAGCTCCAAAGGGCTTGCCAGAAG	GRCh37
NC_000017.9:g.59263218_59263219insGCACTCGCCAAGCCCTAGGCCCACCCTCCTCACCAAGCTCCAAAGGGCTTGCCAGAAG	NCBI36
NG_053004.1:g.15866_15867insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3260_3261insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698013.1:n.3372_3373insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698014.1:n.3595_3596insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698015.1:n.2688_2689insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698016.1:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	ENSP00000513502.1:n.*812_*813insTTCTGGCAA...
ENST00000698017.1:n.2762_2763insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698018.1:n.2893_2894insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698019.1:n.3091_3092insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698020.1:n.2197_2198insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698021.1:c.2106_2107insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698022.1:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	ENSP00000513504.1:n.*812_*813insTTCTGGCAA...
ENST00000698023.1:n.2791_2792insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000698024.1:n.2653_2654insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC
ENST00000448276.7:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC MANE Select	ENSP00000392617.2:n.*812_*813insTTCTGGCAA...
ENST00000448276.6:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	ENSP00000392617.2:n.*812_*813insTTCTGGCAA...
ENST00000613943.4:c.2297_2298insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	ENSP00000483605.1:n.2297_2298insTTCTGGCAA...
NM_001098426.1:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	NP_001091896.1:n.*812_*813insTTCTGGCAAGCC...
XM_005257604.2:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	XP_005257661.2:n.*812_*813insTTCTGGCAAGCC...
NM_001330439.1:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	NP_001317368.1:n.*812_*813insTTCTGGCAAGCC...
NM_001330440.1:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	NP_001317369.1:n.*812_*813insTTCTGGCAAGCC...
NM_001098426.2:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC MANE Select	NP_001091896.1:n.*812_*813insTTCTGGCAAGCC...
NM_001330440.2:c.*812_*813insTTCTGGCAAGCCCTTTGGAGCTTGGTGAGGAGGGTGGGCCTAGGGCTTGGCGAGTGCC	NP_001317369.1:n.*812_*813insTTCTGGCAAGCC...