Canonical Allele Identifier: CA974612404
Gene: EMP2 HGNC NCBI

Linked Data

dbSNP Id: rs2050676253
gnomAD v3: 16-10539319-G-A
gnomAD v4: 16-10539319-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10539319G>A , CM000678.2:g.10539319G>A GRCh38
NC_000016.9:g.10633176G>A , CM000678.1:g.10633176G>A GRCh37
NC_000016.8:g.10540677G>A NCBI36
NG_042058.1:g.46398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359543.8:c.170-1245C>T MANE Select ENSP00000352540.3:n.170-1245C>T
ENST00000359543.7:c.170-1245C>T ENSP00000352540.3:n.170-1245C>T
ENST00000536829.1:c.170-1245C>T ENSP00000445712.1:n.170-1245C>T
NM_001424.4:c.170-1245C>T NP_001415.1:n.170-1245C>T
NM_001424.5:c.170-1245C>T NP_001415.1:n.170-1245C>T
XM_006720864.2:c.170-1245C>T XP_006720927.1:n.170-1245C>T
XM_006720864.3:c.170-1245C>T XP_006720927.1:n.170-1245C>T
NM_001424.6:c.170-1245C>T MANE Select NP_001415.1:n.170-1245C>T
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