Canonical Allele Identifier: CA620785271

Gene: EMP2

Linked Data

• dbSNP Id: rs1201966542
• gnomAD v2: 16-10633167-A-T
• gnomAD v3: 16-10539310-A-T
• gnomAD v4: 16-10539310-A-T
• MyVariant Identifiers: chr16:g.10633167A>T (hg19) ; chr16:g.10539310A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10539310A>T , CM000678.2:g.10539310A>T	GRCh38
NC_000016.9:g.10633167A>T , CM000678.1:g.10633167A>T	GRCh37
NC_000016.8:g.10540668A>T	NCBI36
NG_042058.1:g.46407T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359543.8:c.170-1236T>A MANE Select	ENSP00000352540.3:n.170-1236T>A
ENST00000359543.7:c.170-1236T>A	ENSP00000352540.3:n.170-1236T>A
ENST00000536829.1:c.170-1236T>A	ENSP00000445712.1:n.170-1236T>A
NM_001424.4:c.170-1236T>A	NP_001415.1:n.170-1236T>A
NM_001424.5:c.170-1236T>A	NP_001415.1:n.170-1236T>A
XM_006720864.2:c.170-1236T>A	XP_006720927.1:n.170-1236T>A
XM_006720864.3:c.170-1236T>A	XP_006720927.1:n.170-1236T>A
NM_001424.6:c.170-1236T>A MANE Select	NP_001415.1:n.170-1236T>A