Canonical Allele Identifier: CA346870934

Gene: EML6

Linked Data

• dbSNP Id: rs1379514961
• gnomAD v3: 2-54844136-C-T
• gnomAD v4: 2-54844136-C-T
• MyVariant Identifiers: chr2:g.55071273C>T (hg19) ; chr2:g.54844136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54844136C>T , CM000664.2:g.54844136C>T	GRCh38
NC_000002.11:g.55071273C>T , CM000664.1:g.55071273C>T	GRCh37
NC_000002.10:g.54924777C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356458.8:c.937C>T MANE Select	ENSP00000348842.6:p.Arg313Ter
ENST00000356458.7:c.937C>T	ENSP00000348842.6:p.Arg313Ter
ENST00000673695.1:c.937C>T	ENSP00000501148.1:p.Arg313Ter
ENST00000673912.1:c.937C>T	ENSP00000501234.1:p.Arg313Ter
ENST00000356458.6:c.937C>T	ENSP00000348842.6:p.Arg313Ter
NM_001039753.2:c.937C>T	NP_001034842.2:p.Arg313Ter
XM_011532835.1:c.211C>T	XP_011531137.1:p.Arg71Ter
XM_011532836.1:c.211C>T	XP_011531138.1:p.Arg71Ter
XM_011532837.1:c.211C>T	XP_011531139.1:p.Arg71Ter
XM_011532838.1:c.-43-3350C>T	XP_011531140.1:n.-43-3350C>T
XM_011532839.1:c.-4-5826C>T	XP_011531141.1:n.-4-5826C>T
XM_017004098.2:c.937C>T	XP_016859587.1:p.Arg313Ter
XM_017004099.2:c.937C>T	XP_016859588.1:p.Arg313Ter
XM_017004100.2:c.937C>T	XP_016859589.1:p.Arg313Ter
XM_017004101.1:c.-43-3350C>T	XP_016859590.1:n.-43-3350C>T
XM_017004102.1:c.937C>T	XP_016859591.1:p.Arg313Ter
XR_001738743.1:n.1761C>T
XR_002959298.1:n.1761C>T
NM_001039753.4:c.937C>T MANE Select	NP_001034842.2:p.Arg313Ter