Canonical Allele Identifier: CA7897829

Gene: EMP2

Linked Data

• ClinVar Variation Id: 258093
• ClinVar RCV Id: RCV000251298 ; RCV001658206 ; RCV001689830
• dbSNP Id: rs1504883
• ExAC: 16:10631945 G / A
• gnomAD v2: 16-10631945-G-A
• gnomAD v3: 16-10538088-G-A
• gnomAD v4: 16-10538088-G-A
• MyVariant Identifiers: chr16:g.10631945G>A (hg19) ; chr16:g.10538088G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10538088G>A , CM000678.2:g.10538088G>A	GRCh38
NC_000016.9:g.10631945G>A , CM000678.1:g.10631945G>A	GRCh37
NC_000016.8:g.10539446G>A	NCBI36
NG_042058.1:g.47629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359543.8:c.170-14C>T MANE Select	ENSP00000352540.3:n.170-14C>T
ENST00000359543.7:c.170-14C>T	ENSP00000352540.3:n.170-14C>T
ENST00000536829.1:c.170-14C>T	ENSP00000445712.1:n.170-14C>T
NM_001424.4:c.170-14C>T	NP_001415.1:n.170-14C>T
NM_001424.5:c.170-14C>T	NP_001415.1:n.170-14C>T
XM_006720864.2:c.170-14C>T	XP_006720927.1:n.170-14C>T
XM_006720864.3:c.170-14C>T	XP_006720927.1:n.170-14C>T
NM_001424.6:c.170-14C>T MANE Select	NP_001415.1:n.170-14C>T