Canonical Allele Identifier: CA346075470

Gene: ASXL2

Linked Data

• dbSNP Id: rs1574389208
• gnomAD v4: 2-25742456-A-G
• MyVariant Identifiers: chr2:g.25965325A>G (hg19) ; chr2:g.25742456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742456A>G , CM000664.2:g.25742456A>G	GRCh38
NC_000002.11:g.25965325A>G , CM000664.1:g.25965325A>G	GRCh37
NC_000002.10:g.25818829A>G	NCBI36
NG_052995.1:g.141061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3878T>C	ENSP00000337250.5:p.Leu1293Pro
ENST00000435504.9:c.3881T>C MANE Select	ENSP00000391447.3:p.Leu1294Pro
ENST00000336112.8:c.3797T>C	ENSP00000337250.4:p.Leu1266Pro
ENST00000404843.5:c.2330T>C	ENSP00000383920.1:p.Leu777Pro
ENST00000435504.8:c.3881T>C	ENSP00000391447.3:p.Leu1294Pro
NM_018263.4:c.3881T>C	NP_060733.4:p.Leu1294Pro
XM_006712039.2:c.3515T>C	XP_006712102.1:p.Leu1172Pro
XM_006712040.1:c.3101T>C	XP_006712103.1:p.Leu1034Pro
XM_011532950.1:c.3878T>C	XP_011531252.1:p.Leu1293Pro
XM_011532951.1:c.3707T>C	XP_011531253.1:p.Leu1236Pro
NM_018263.5:c.3881T>C	NP_060733.4:p.Leu1294Pro
XM_006712039.3:c.3515T>C	XP_006712102.1:p.Leu1172Pro
XM_006712040.2:c.3101T>C	XP_006712103.1:p.Leu1034Pro
XM_011532950.3:c.3878T>C	XP_011531252.1:p.Leu1293Pro
XM_011532951.2:c.3707T>C	XP_011531253.1:p.Leu1236Pro
XM_017004430.1:c.3101T>C	XP_016859919.1:p.Leu1034Pro
XM_024452974.1:c.4061T>C	XP_024308742.1:p.Leu1354Pro
NM_001369346.1:c.3707T>C	NP_001356275.1:p.Leu1236Pro
NM_001369347.1:c.3101T>C	NP_001356276.1:p.Leu1034Pro
NM_018263.6:c.3881T>C MANE Select	NP_060733.4:p.Leu1294Pro