Canonical Allele Identifier: CA620785273

Gene: EMP2

Linked Data

• dbSNP Id: rs1251001946
• gnomAD v2: 16-10633211-C-A
• gnomAD v3: 16-10539354-C-A
• gnomAD v4: 16-10539354-C-A
• MyVariant Identifiers: chr16:g.10633211C>A (hg19) ; chr16:g.10539354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10539354C>A , CM000678.2:g.10539354C>A	GRCh38
NC_000016.9:g.10633211C>A , CM000678.1:g.10633211C>A	GRCh37
NC_000016.8:g.10540712C>A	NCBI36
NG_042058.1:g.46363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359543.8:c.170-1280G>T MANE Select	ENSP00000352540.3:n.170-1280G>T
ENST00000359543.7:c.170-1280G>T	ENSP00000352540.3:n.170-1280G>T
ENST00000536829.1:c.170-1280G>T	ENSP00000445712.1:n.170-1280G>T
NM_001424.4:c.170-1280G>T	NP_001415.1:n.170-1280G>T
NM_001424.5:c.170-1280G>T	NP_001415.1:n.170-1280G>T
XM_006720864.2:c.170-1280G>T	XP_006720927.1:n.170-1280G>T
XM_006720864.3:c.170-1280G>T	XP_006720927.1:n.170-1280G>T
NM_001424.6:c.170-1280G>T MANE Select	NP_001415.1:n.170-1280G>T