Canonical Allele Identifier: CA433434521
Gene: LARS2 HGNC NCBI
LARS2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 3-45496362-T-C
MyVariant Identifiers: chr3:g.45537854T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45496362T>C , CM000665.2:g.45496362T>C GRCh38
NC_000003.11:g.45537854T>C , CM000665.1:g.45537854T>C GRCh37
NC_000003.10:g.45512858T>C NCBI36
NG_033907.1:g.112780T>C
NG_033907.2:g.112780T>C
NG_033907.3:g.112799T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265537.8:c.1611T>C (LARS2) ENSP00000265537.4:p.His537=
ENST00000642274.1:c.1611T>C (LARS2) ENSP00000495707.1:p.His537=
ENST00000645846.2:c.1611T>C (LARS2) MANE Select ENSP00000495093.1:p.His537=
ENST00000650792.2:c.1611T>C (LARS2) ENSP00000498867.1:p.His537=
ENST00000651549.1:c.1611T>C (LARS2) ENSP00000499002.1:p.His537=
ENST00000652135.1:c.*1479T>C (LARS2) ENSP00000499104.1:n.*1479T>C
ENST00000265537.7:c.1611T>C (LARS2) ENSP00000265537.3:p.His537=
ENST00000414984.5:c.1482T>C (LARS2) ENSP00000412893.1:p.His494=
ENST00000415258.5:c.1611T>C (LARS2) ENSP00000408576.1:p.His537=
NM_015340.3:c.1611T>C (LARS2) NP_056155.1:p.His537=
NR_048543.1:n.261-862A>G (LARS2-AS1)
XM_005265006.1:c.1611T>C (LARS2) XP_005265063.1:p.His537=
XM_011533554.1:c.1611T>C (LARS2) XP_011531856.1:p.His537=
XM_005265006.2:c.1611T>C (LARS2) XP_005265063.1:p.His537=
XM_011533554.2:c.1611T>C (LARS2) XP_011531856.1:p.His537=
XM_017006042.1:c.1611T>C (LARS2) XP_016861531.1:p.His537=
NM_015340.4:c.1611T>C (LARS2) MANE Select NP_056155.1:p.His537=
NM_001368263.1:c.1611T>C (LARS2) NP_001355192.1:p.His537=