Canonical Allele Identifier: CA2838535075
Gene: EBF2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26044673A>G , CM000670.2:g.26044673A>G GRCh38
NC_000008.10:g.25902189A>G , CM000670.1:g.25902189A>G GRCh37
NC_000008.9:g.25958106A>G NCBI36
NG_030344.1:g.5452T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.131+56T>C MANE Select ENSP00000430241.1:n.131+56T>C
ENST00000517825.1:n.450+56T>C
ENST00000520164.5:c.131+56T>C ENSP00000430241.1:n.131+56T>C
NM_022659.3:c.131+56T>C NP_073150.2:n.131+56T>C
NM_022659.4:c.131+56T>C MANE Select NP_073150.2:n.131+56T>C
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