Canonical Allele Identifier: CA2270102989
Gene: SMARCD2 HGNC NCBI

Linked Data

dbSNP Id: rs2040197209
gnomAD v4: 17-63832084-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832084T>C , CM000679.2:g.63832084T>C GRCh38
NC_000017.10:g.61909444T>C , CM000679.1:g.61909444T>C GRCh37
NC_000017.9:g.59263176T>C NCBI36
NG_053004.1:g.15908A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000448276.7:c.*854A>G MANE Select ENSP00000392617.2:n.*854A>G
ENST00000448276.6:c.*854A>G ENSP00000392617.2:n.*854A>G
ENST00000613943.4:c.2339A>G ENSP00000483605.1:n.2339A>G
NM_001098426.1:c.*854A>G NP_001091896.1:n.*854A>G
XM_005257604.2:c.*854A>G XP_005257661.2:n.*854A>G
NM_001330439.1:c.*854A>G NP_001317368.1:n.*854A>G
NM_001330440.1:c.*854A>G NP_001317369.1:n.*854A>G
NM_001098426.2:c.*854A>G MANE Select NP_001091896.1:n.*854A>G
NM_001330440.2:c.*854A>G NP_001317369.1:n.*854A>G
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