Canonical Allele Identifier: CA384045040

Gene: ETV6

Linked Data

• gnomAD v4: 12-11886028-T-G
• COSMIC: COSM84136
• MyVariant Identifiers: chr12:g.12038962T>G (hg19) ; chr12:g.11886028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886028T>G , CM000674.2:g.11886028T>G	GRCh38
NC_000012.11:g.12038962T>G , CM000674.1:g.12038962T>G	GRCh37
NC_000012.10:g.11930229T>G	NCBI36
NG_011443.1:g.241175T>G , LRG_609:g.241175T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1253+2T>G MANE Select	ENSP00000379658.3:n.1253+2T>G
ENST00000266427.3:c.90+2T>G
ENST00000396373.8:c.1253+2T>G	ENSP00000379658.3:n.1253+2T>G
NM_001987.4:c.1253+2T>G , LRG_609t1:c.1253+2T>G	NP_001978.1:n.1253+2T>G
XM_011520607.1:c.1250+2T>G	XP_011518909.1:n.1250+2T>G
XM_011520608.1:c.1226+2T>G	XP_011518910.1:n.1226+2T>G
XM_011520609.1:c.989+2T>G	XP_011518911.1:n.989+2T>G
XM_011520610.1:c.989+2T>G	XP_011518912.1:n.989+2T>G
XM_011520611.1:c.989+2T>G	XP_011518913.1:n.989+2T>G
XM_011520612.1:c.632+2T>G	XP_011518914.1:n.632+2T>G
XM_011520607.2:c.1250+2T>G	XP_011518909.1:n.1250+2T>G
XM_011520608.2:c.1226+2T>G	XP_011518910.1:n.1226+2T>G
XM_011520609.2:c.989+2T>G	XP_011518911.1:n.989+2T>G
XM_011520611.2:c.989+2T>G	XP_011518913.1:n.989+2T>G
XM_011520612.2:c.632+2T>G	XP_011518914.1:n.632+2T>G
XM_017018990.1:c.1118+2T>G	XP_016874479.1:n.1118+2T>G
XM_017018991.1:c.989+2T>G	XP_016874480.1:n.989+2T>G
NM_001987.5:c.1253+2T>G MANE Select	NP_001978.1:n.1253+2T>G