Canonical Allele Identifier: CA4842454

Gene: EMC2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.108476812C>G , CM000670.2:g.108476812C>G	GRCh38
NC_000008.10:g.109489041C>G , CM000670.1:g.109489041C>G	GRCh37
NC_000008.9:g.109558217C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014673.5:c.622C>G MANE Select	NP_055488.1:p.Leu208Val
ENST00000220853.8:c.622C>G MANE Select	ENSP00000220853.3:p.Leu208Val
NM_001329493.1:c.649C>G	NP_001316422.1:p.Leu217Val
NM_001329493.2:c.649C>G	NP_001316422.1:p.Leu217Val
NM_001329495.1:c.625C>G	NP_001316424.1:p.Leu209Val
NM_001329495.2:c.625C>G	NP_001316424.1:p.Leu209Val
NM_014673.3:c.622C>G	NP_055488.1:p.Leu208Val
NM_014673.4:c.622C>G	NP_055488.1:p.Leu208Val
NR_138033.1:n.640C>G
NR_138033.2:n.599C>G
ENST00000220853.7:c.622C>G	ENSP00000220853.3:p.Leu208Val
ENST00000519450.2:n.2144C>G
ENST00000519642.1:c.352+6691C>G
ENST00000520294.5:n.345C>G