Canonical Allele Identifier: CA346075777

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2231804
• ClinVar RCV Id: RCV002708262
• MyVariant Identifiers: chr2:g.25965377C>G (hg19) ; chr2:g.25742508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742508C>G , CM000664.2:g.25742508C>G	GRCh38
NC_000002.11:g.25965377C>G , CM000664.1:g.25965377C>G	GRCh37
NC_000002.10:g.25818881C>G	NCBI36
NG_052995.1:g.141009G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3826G>C	ENSP00000337250.5:p.Val1276Leu
ENST00000435504.9:c.3829G>C MANE Select	ENSP00000391447.3:p.Val1277Leu
ENST00000336112.8:c.3745G>C	ENSP00000337250.4:p.Val1249Leu
ENST00000404843.5:c.2278G>C	ENSP00000383920.1:p.Val760Leu
ENST00000435504.8:c.3829G>C	ENSP00000391447.3:p.Val1277Leu
NM_018263.4:c.3829G>C	NP_060733.4:p.Val1277Leu
XM_006712039.2:c.3463G>C	XP_006712102.1:p.Val1155Leu
XM_006712040.1:c.3049G>C	XP_006712103.1:p.Val1017Leu
XM_011532950.1:c.3826G>C	XP_011531252.1:p.Val1276Leu
XM_011532951.1:c.3655G>C	XP_011531253.1:p.Val1219Leu
NM_018263.5:c.3829G>C	NP_060733.4:p.Val1277Leu
XM_006712039.3:c.3463G>C	XP_006712102.1:p.Val1155Leu
XM_006712040.2:c.3049G>C	XP_006712103.1:p.Val1017Leu
XM_011532950.3:c.3826G>C	XP_011531252.1:p.Val1276Leu
XM_011532951.2:c.3655G>C	XP_011531253.1:p.Val1219Leu
XM_017004430.1:c.3049G>C	XP_016859919.1:p.Val1017Leu
XM_024452974.1:c.4009G>C	XP_024308742.1:p.Val1337Leu
NM_001369346.1:c.3655G>C	NP_001356275.1:p.Val1219Leu
NM_001369347.1:c.3049G>C	NP_001356276.1:p.Val1017Leu
NM_018263.6:c.3829G>C MANE Select	NP_060733.4:p.Val1277Leu