Canonical Allele Identifier: CA384044924

Gene: ETV6

Linked Data

• dbSNP Id: rs2136602367
• MyVariant Identifiers: chr12:g.12038913C>A (hg19) ; chr12:g.11885979C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885979C>A , CM000674.2:g.11885979C>A	GRCh38
NC_000012.11:g.12038913C>A , CM000674.1:g.12038913C>A	GRCh37
NC_000012.10:g.11930180C>A	NCBI36
NG_011443.1:g.241126C>A , LRG_609:g.241126C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1206C>A MANE Select	ENSP00000379658.3:p.Tyr402Ter
ENST00000266427.3:c.43C>A
ENST00000396373.8:c.1206C>A	ENSP00000379658.3:p.Tyr402Ter
NM_001987.4:c.1206C>A , LRG_609t1:c.1206C>A	NP_001978.1:p.Tyr402Ter
XM_011520607.1:c.1203C>A	XP_011518909.1:p.Tyr401Ter
XM_011520608.1:c.1179C>A	XP_011518910.1:p.Tyr393Ter
XM_011520609.1:c.942C>A	XP_011518911.1:p.Tyr314Ter
XM_011520610.1:c.942C>A	XP_011518912.1:p.Tyr314Ter
XM_011520611.1:c.942C>A	XP_011518913.1:p.Tyr314Ter
XM_011520612.1:c.585C>A	XP_011518914.1:p.Tyr195Ter
XM_011520607.2:c.1203C>A	XP_011518909.1:p.Tyr401Ter
XM_011520608.2:c.1179C>A	XP_011518910.1:p.Tyr393Ter
XM_011520609.2:c.942C>A	XP_011518911.1:p.Tyr314Ter
XM_011520611.2:c.942C>A	XP_011518913.1:p.Tyr314Ter
XM_011520612.2:c.585C>A	XP_011518914.1:p.Tyr195Ter
XM_017018990.1:c.1071C>A	XP_016874479.1:p.Tyr357Ter
XM_017018991.1:c.942C>A	XP_016874480.1:p.Tyr314Ter
NM_001987.5:c.1206C>A MANE Select	NP_001978.1:p.Tyr402Ter