Canonical Allele Identifier: CA385401061

Gene: STAT6

Linked Data

• gnomAD v4: 12-57107229-A-G
• MyVariant Identifiers: chr12:g.57501012A>G (hg19) ; chr12:g.57107229A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57107229A>G , CM000674.2:g.57107229A>G	GRCh38
NC_000012.11:g.57501012A>G , CM000674.1:g.57501012A>G	GRCh37
NC_000012.10:g.55787279A>G	NCBI36
NG_021272.1:g.9185T>C
NG_021272.2:g.29911T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300134.8:c.339+2T>C MANE Select	ENSP00000300134.3:n.339+2T>C
ENST00000553533.2:c.339+2T>C	ENSP00000451546.2:n.339+2T>C
ENST00000554764.6:c.*83+2T>C	ENSP00000451909.1:n.*83+2T>C
ENST00000640254.2:c.339+2T>C	ENSP00000491116.2:n.339+2T>C
ENST00000651176.1:c.339+2T>C	ENSP00000498693.1:n.339+2T>C
ENST00000300134.7:c.339+2T>C	ENSP00000300134.3:n.339+2T>C
ENST00000454075.7:c.339+2T>C	ENSP00000401486.3:n.339+2T>C
ENST00000537215.6:c.9+2T>C	ENSP00000444530.2:n.9+2T>C
ENST00000538913.6:c.9+2T>C	ENSP00000445409.2:n.9+2T>C
ENST00000543873.6:c.339+2T>C	ENSP00000438451.2:n.339+2T>C
ENST00000553397.5:c.339+2T>C	ENSP00000452203.1:n.339+2T>C
ENST00000553499.5:c.339+2T>C	ENSP00000451074.1:n.339+2T>C
ENST00000554764.5:c.*83+2T>C	ENSP00000451909.1:n.*83+2T>C
ENST00000555104.5:c.*83+2T>C	ENSP00000450510.1:n.*83+2T>C
ENST00000555641.1:n.344+2T>C
ENST00000555849.5:c.339+2T>C	ENSP00000452394.1:n.339+2T>C
ENST00000556155.5:c.339+2T>C	ENSP00000451742.1:n.339+2T>C
ENST00000556259.5:c.285+2T>C	ENSP00000452373.1:n.285+2T>C
NM_001178078.1:c.339+2T>C	NP_001171549.1:n.339+2T>C
NM_001178079.1:c.339+2T>C	NP_001171550.1:n.339+2T>C
NM_001178080.1:c.9+2T>C	NP_001171551.1:n.9+2T>C
NM_001178081.1:c.9+2T>C	NP_001171552.1:n.9+2T>C
NM_003153.4:c.339+2T>C	NP_003144.3:n.339+2T>C
NR_033659.1:n.506+2T>C
XM_006719574.1:c.339+2T>C	XP_006719637.1:n.339+2T>C
XM_006719575.1:c.339+2T>C	XP_006719638.1:n.339+2T>C
XM_011538703.1:c.339+2T>C	XP_011537005.1:n.339+2T>C
XM_011538704.1:c.339+2T>C	XP_011537006.1:n.339+2T>C
XM_011538705.1:c.339+2T>C	XP_011537007.1:n.339+2T>C
XM_011538706.1:c.339+2T>C	XP_011537008.1:n.339+2T>C
XM_011538707.1:c.339+2T>C	XP_011537009.1:n.339+2T>C
XM_011538708.1:c.9+2T>C	XP_011537010.1:n.9+2T>C
XM_011538709.1:c.9+2T>C	XP_011537011.1:n.9+2T>C
XM_011538703.3:c.339+2T>C	XP_011537005.1:n.339+2T>C
XM_011538704.3:c.339+2T>C	XP_011537006.1:n.339+2T>C
XM_011538705.3:c.339+2T>C	XP_011537007.1:n.339+2T>C
XM_011538707.3:c.339+2T>C	XP_011537009.1:n.339+2T>C
XM_011538708.3:c.9+2T>C	XP_011537010.1:n.9+2T>C
NM_003153.5:c.339+2T>C MANE Select	NP_003144.3:n.339+2T>C
NM_001178078.2:c.339+2T>C	NP_001171549.1:n.339+2T>C
NM_001178079.2:c.339+2T>C	NP_001171550.1:n.339+2T>C
NM_001178080.2:c.9+2T>C	NP_001171551.1:n.9+2T>C
NM_001178081.2:c.9+2T>C	NP_001171552.1:n.9+2T>C
NR_033659.2:n.455+2T>C