Canonical Allele Identifier: CA4778924

Gene: LACTB2 LACTB2-AS1

Linked Data

• ClinVar Variation Id: 3117327
• ClinVar RCV Id: RCV004407159
• dbSNP Id: rs777106069
• ExAC: 8:71574045 G / C
• gnomAD v2: 8-71574045-G-C
• gnomAD v3: 8-70661810-G-C
• gnomAD v4: 8-70661810-G-C
• MyVariant Identifiers: chr8:g.71574045G>C (hg19) ; chr8:g.70661810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.70661810G>C , CM000670.2:g.70661810G>C	GRCh38
NC_000008.10:g.71574045G>C , CM000670.1:g.71574045G>C	GRCh37
NC_000008.9:g.71736599G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276590.5:c.210C>G (LACTB2) MANE Select	ENSP00000276590.4:p.Ile70Met
ENST00000276590.4:c.210C>G (LACTB2)	ENSP00000276590.4:p.Ile70Met
ENST00000522447.5:c.210C>G (LACTB2)	ENSP00000428801.1:p.Ile70Met
NM_016027.2:c.210C>G (LACTB2)	NP_057111.1:p.Ile70Met
NR_038881.1:n.2247G>C (LACTB2-AS1)
NM_016027.3:c.210C>G (LACTB2) MANE Select	NP_057111.1:p.Ile70Met