Canonical Allele Identifier: CA14951398
Gene: LGALS2 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.37576621G>A
GRCh37 chr22:g.37972628G>A
gnomAD v2:
22:37972628 G / A
gnomAD v3:
22:37576621 G / A
gnomAD v4:
chr22-37576621-G-A
Joint Max Group AF 0.57961807 (NFE)
Genomes Max Group AF 0.57961807 (NFE)
ClinVar RCV:
RCV001799609
ClinVar Variation:
14472
dbSNP:
7291467
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37576621G>A , CM000684.2:g.37576621G>A GRCh38
NC_000022.10:g.37972628G>A , CM000684.1:g.37972628G>A GRCh37
NC_000022.9:g.36302574G>A NCBI36
NG_012096.1:g.8397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215886.6:c.6+3279C>T MANE Select ENSP00000215886.4:n.6+3279C>T
ENST00000215886.5:c.6+3279C>T ENSP00000215886.4:n.6+3279C>T
ENST00000416480.1:c.6+3279C>T ENSP00000407351.1:n.6+3279C>T
NM_006498.2:c.6+3279C>T NP_006489.1:n.6+3279C>T
NM_006498.3:c.6+3279C>T MANE Select NP_006489.1:n.6+3279C>T
Search 100 bp 5'
Search 100 bp 3'