Canonical Allele Identifier: CA1086023

Gene: TNFAIP8L2 SCNM1 LYSMD1

Linked Data

• ClinVar Variation Id: 708675
• ClinVar RCV Id: RCV000879978
• dbSNP Id: rs41310905
• ExAC: 1:151131581 G / A
• gnomAD v2: 1-151131581-G-A
• gnomAD v3: 1-151159105-G-A
• gnomAD v4: 1-151159105-G-A
• MyVariant Identifiers: chr1:g.151131581G>A (hg19) ; chr1:g.151159105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151159105G>A , CM000663.2:g.151159105G>A	GRCh38
NC_000001.10:g.151131581G>A , CM000663.1:g.151131581G>A	GRCh37
NC_000001.9:g.149398205G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368910.4:c.408G>A (TNFAIP8L2) MANE Select	ENSP00000357906.3:p.Thr136=
ENST00000368910.3:c.408G>A (TNFAIP8L2)	ENSP00000357906.3:p.Thr136=
ENST00000602841.5:c.-55+2383G>A (SCNM1)	ENSP00000473282.1:n.-55+2383G>A
NM_001204848.1:c.-55+2383G>A	NP_001191777.1:n.-55+2383G>A
NM_024575.4:c.408G>A (TNFAIP8L2)	NP_078851.2:p.Thr136=
XR_921777.1:n.1387+1710C>T (LYSMD1)
NR_144937.1:n.94+2383G>A
XR_001737165.2:n.784+1710C>T (LYSMD1)
XR_001737166.2:n.784+1710C>T (LYSMD1)
XR_001737167.1:n.667+1710C>T (LYSMD1)
NM_024575.5:c.408G>A (TNFAIP8L2) MANE Select	NP_078851.2:p.Thr136=
NM_001204848.2:c.-55+2383G>A	NP_001191777.1:n.-55+2383G>A
NR_144937.2:n.74+2383G>A