Canonical Allele Identifier: CA346075225

Gene: ASXL2

Linked Data

• gnomAD v3: 2-25742414-A-G
• gnomAD v4: 2-25742414-A-G
• MyVariant Identifiers: chr2:g.25965283A>G (hg19) ; chr2:g.25742414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742414A>G , CM000664.2:g.25742414A>G	GRCh38
NC_000002.11:g.25965283A>G , CM000664.1:g.25965283A>G	GRCh37
NC_000002.10:g.25818787A>G	NCBI36
NG_052995.1:g.141103T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3920T>C	ENSP00000337250.5:p.Leu1307Pro
ENST00000435504.9:c.3923T>C MANE Select	ENSP00000391447.3:p.Leu1308Pro
ENST00000336112.8:c.3839T>C	ENSP00000337250.4:p.Leu1280Pro
ENST00000404843.5:c.2372T>C	ENSP00000383920.1:p.Leu791Pro
ENST00000435504.8:c.3923T>C	ENSP00000391447.3:p.Leu1308Pro
NM_018263.4:c.3923T>C	NP_060733.4:p.Leu1308Pro
XM_006712039.2:c.3557T>C	XP_006712102.1:p.Leu1186Pro
XM_006712040.1:c.3143T>C	XP_006712103.1:p.Leu1048Pro
XM_011532950.1:c.3920T>C	XP_011531252.1:p.Leu1307Pro
XM_011532951.1:c.3749T>C	XP_011531253.1:p.Leu1250Pro
NM_018263.5:c.3923T>C	NP_060733.4:p.Leu1308Pro
XM_006712039.3:c.3557T>C	XP_006712102.1:p.Leu1186Pro
XM_006712040.2:c.3143T>C	XP_006712103.1:p.Leu1048Pro
XM_011532950.3:c.3920T>C	XP_011531252.1:p.Leu1307Pro
XM_011532951.2:c.3749T>C	XP_011531253.1:p.Leu1250Pro
XM_017004430.1:c.3143T>C	XP_016859919.1:p.Leu1048Pro
XM_024452974.1:c.4103T>C	XP_024308742.1:p.Leu1368Pro
NM_001369346.1:c.3749T>C	NP_001356275.1:p.Leu1250Pro
NM_001369347.1:c.3143T>C	NP_001356276.1:p.Leu1048Pro
NM_018263.6:c.3923T>C MANE Select	NP_060733.4:p.Leu1308Pro