Canonical Allele Identifier: CA277624410

Gene: EMP2

Linked Data

• dbSNP Id: rs998957998
• gnomAD v2: 16-10633224-A-G
• gnomAD v3: 16-10539367-A-G
• gnomAD v4: 16-10539367-A-G
• MyVariant Identifiers: chr16:g.10633224A>G (hg19) ; chr16:g.10539367A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10539367A>G , CM000678.2:g.10539367A>G	GRCh38
NC_000016.9:g.10633224A>G , CM000678.1:g.10633224A>G	GRCh37
NC_000016.8:g.10540725A>G	NCBI36
NG_042058.1:g.46350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359543.8:c.170-1293T>C MANE Select	ENSP00000352540.3:n.170-1293T>C
ENST00000359543.7:c.170-1293T>C	ENSP00000352540.3:n.170-1293T>C
ENST00000536829.1:c.170-1293T>C	ENSP00000445712.1:n.170-1293T>C
NM_001424.4:c.170-1293T>C	NP_001415.1:n.170-1293T>C
NM_001424.5:c.170-1293T>C	NP_001415.1:n.170-1293T>C
XM_006720864.2:c.170-1293T>C	XP_006720927.1:n.170-1293T>C
XM_006720864.3:c.170-1293T>C	XP_006720927.1:n.170-1293T>C
NM_001424.6:c.170-1293T>C MANE Select	NP_001415.1:n.170-1293T>C