Canonical Allele Identifier: CA2639297955
Gene: SMARCD2 HGNC NCBI

Linked Data

gnomAD v4: 17-63832085-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832085A>G , CM000679.2:g.63832085A>G GRCh38
NC_000017.10:g.61909445A>G , CM000679.1:g.61909445A>G GRCh37
NC_000017.9:g.59263177A>G NCBI36
NG_053004.1:g.15907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000448276.7:c.*853T>C MANE Select ENSP00000392617.2:n.*853T>C
ENST00000448276.6:c.*853T>C ENSP00000392617.2:n.*853T>C
ENST00000613943.4:c.2338T>C ENSP00000483605.1:n.2338T>C
NM_001098426.1:c.*853T>C NP_001091896.1:n.*853T>C
XM_005257604.2:c.*853T>C XP_005257661.2:n.*853T>C
NM_001330439.1:c.*853T>C NP_001317368.1:n.*853T>C
NM_001330440.1:c.*853T>C NP_001317369.1:n.*853T>C
NM_001098426.2:c.*853T>C MANE Select NP_001091896.1:n.*853T>C
NM_001330440.2:c.*853T>C NP_001317369.1:n.*853T>C
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