Canonical Allele Identifier: CA277624375

Gene: EMP2

Linked Data

• dbSNP Id: rs577169345
• gnomAD v2: 16-10633215-T-C
• gnomAD v3: 16-10539358-T-C
• gnomAD v4: 16-10539358-T-C
• MyVariant Identifiers: chr16:g.10633215T>C (hg19) ; chr16:g.10539358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10539358T>C , CM000678.2:g.10539358T>C	GRCh38
NC_000016.9:g.10633215T>C , CM000678.1:g.10633215T>C	GRCh37
NC_000016.8:g.10540716T>C	NCBI36
NG_042058.1:g.46359A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359543.8:c.170-1284A>G MANE Select	ENSP00000352540.3:n.170-1284A>G
ENST00000359543.7:c.170-1284A>G	ENSP00000352540.3:n.170-1284A>G
ENST00000536829.1:c.170-1284A>G	ENSP00000445712.1:n.170-1284A>G
NM_001424.4:c.170-1284A>G	NP_001415.1:n.170-1284A>G
NM_001424.5:c.170-1284A>G	NP_001415.1:n.170-1284A>G
XM_006720864.2:c.170-1284A>G	XP_006720927.1:n.170-1284A>G
XM_006720864.3:c.170-1284A>G	XP_006720927.1:n.170-1284A>G
NM_001424.6:c.170-1284A>G MANE Select	NP_001415.1:n.170-1284A>G