Canonical Allele Identifier: CA717886433

Gene: EMP2

Linked Data

• dbSNP Id: rs1281147765
• gnomAD v3: 16-10539244-TTTTC-T
• gnomAD v4: 16-10539244-TTTTC-T
• MyVariant Identifiers: chr16:g.10633102_10633105del (hg19) ; chr16:g.10539245_10539248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10539250_10539253del , CM000678.2:g.10539250_10539253del	GRCh38
NC_000016.9:g.10633107_10633110del , CM000678.1:g.10633107_10633110del	GRCh37
NC_000016.8:g.10540608_10540611del	NCBI36
NG_042058.1:g.46469_46472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359543.8:c.170-1174_170-1171del MANE Select	ENSP00000352540.3:n.170-1174_170-1171del
ENST00000359543.7:c.170-1174_170-1171del	ENSP00000352540.3:n.170-1174_170-1171del
ENST00000536829.1:c.170-1174_170-1171del	ENSP00000445712.1:n.170-1174_170-1171del
NM_001424.4:c.170-1174_170-1171del	NP_001415.1:n.170-1174_170-1171del
NM_001424.5:c.170-1174_170-1171del	NP_001415.1:n.170-1174_170-1171del
XM_006720864.2:c.170-1174_170-1171del	XP_006720927.1:n.170-1174_170-1171del
XM_006720864.3:c.170-1174_170-1171del	XP_006720927.1:n.170-1174_170-1171del
NM_001424.6:c.170-1174_170-1171del MANE Select	NP_001415.1:n.170-1174_170-1171del