Canonical Allele Identifier: CA717886465

Gene: EMP2

Linked Data

• dbSNP Id: rs1376677582
• gnomAD v3: 16-10539262-TTTCC-T
• gnomAD v4: 16-10539262-TTTCC-T
• MyVariant Identifiers: chr16:g.10633120_10633123del (hg19) ; chr16:g.10539263_10539266del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10539266_10539269del , CM000678.2:g.10539266_10539269del	GRCh38
NC_000016.9:g.10633123_10633126del , CM000678.1:g.10633123_10633126del	GRCh37
NC_000016.8:g.10540624_10540627del	NCBI36
NG_042058.1:g.46451_46454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359543.8:c.170-1192_170-1189del MANE Select	ENSP00000352540.3:n.170-1192_170-1189del
ENST00000359543.7:c.170-1192_170-1189del	ENSP00000352540.3:n.170-1192_170-1189del
ENST00000536829.1:c.170-1192_170-1189del	ENSP00000445712.1:n.170-1192_170-1189del
NM_001424.4:c.170-1192_170-1189del	NP_001415.1:n.170-1192_170-1189del
NM_001424.5:c.170-1192_170-1189del	NP_001415.1:n.170-1192_170-1189del
XM_006720864.2:c.170-1192_170-1189del	XP_006720927.1:n.170-1192_170-1189del
XM_006720864.3:c.170-1192_170-1189del	XP_006720927.1:n.170-1192_170-1189del
NM_001424.6:c.170-1192_170-1189del MANE Select	NP_001415.1:n.170-1192_170-1189del