Canonical Allele Identifier: CA384044914

Gene: ETV6

Linked Data

• ClinVar Variation Id: 2759163
• ClinVar RCV Id: RCV003564592
• COSMIC: COSM1166636
• MyVariant Identifiers: chr12:g.12038909A>G (hg19) ; chr12:g.11885975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885975A>G , CM000674.2:g.11885975A>G	GRCh38
NC_000012.11:g.12038909A>G , CM000674.1:g.12038909A>G	GRCh37
NC_000012.10:g.11930176A>G	NCBI36
NG_011443.1:g.241122A>G , LRG_609:g.241122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1202A>G MANE Select	ENSP00000379658.3:p.Tyr401Cys
ENST00000266427.3:c.39A>G
ENST00000396373.8:c.1202A>G	ENSP00000379658.3:p.Tyr401Cys
NM_001987.4:c.1202A>G , LRG_609t1:c.1202A>G	NP_001978.1:p.Tyr401Cys
XM_011520607.1:c.1199A>G	XP_011518909.1:p.Tyr400Cys
XM_011520608.1:c.1175A>G	XP_011518910.1:p.Tyr392Cys
XM_011520609.1:c.938A>G	XP_011518911.1:p.Tyr313Cys
XM_011520610.1:c.938A>G	XP_011518912.1:p.Tyr313Cys
XM_011520611.1:c.938A>G	XP_011518913.1:p.Tyr313Cys
XM_011520612.1:c.581A>G	XP_011518914.1:p.Tyr194Cys
XM_011520607.2:c.1199A>G	XP_011518909.1:p.Tyr400Cys
XM_011520608.2:c.1175A>G	XP_011518910.1:p.Tyr392Cys
XM_011520609.2:c.938A>G	XP_011518911.1:p.Tyr313Cys
XM_011520611.2:c.938A>G	XP_011518913.1:p.Tyr313Cys
XM_011520612.2:c.581A>G	XP_011518914.1:p.Tyr194Cys
XM_017018990.1:c.1067A>G	XP_016874479.1:p.Tyr356Cys
XM_017018991.1:c.938A>G	XP_016874480.1:p.Tyr313Cys
NM_001987.5:c.1202A>G MANE Select	NP_001978.1:p.Tyr401Cys