Canonical Allele Identifier: CA128341912

Gene: HARS2

Linked Data

• ClinVar Variation Id: 2992107
• ClinVar RCV Id: RCV003855234
• dbSNP Id: rs1012333899
• gnomAD v3: 5-140695722-T-C
• gnomAD v4: 5-140695722-T-C
• MyVariant Identifiers: chr5:g.140075307T>C (hg19) ; chr5:g.140695722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695722T>C , CM000667.2:g.140695722T>C	GRCh38
NC_000005.9:g.140075307T>C , CM000667.1:g.140075307T>C	GRCh37
NC_000005.8:g.140055491T>C	NCBI36
NG_021415.1:g.9290T>C
NG_032158.1:g.665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.526-16T>C MANE Select	ENSP00000230771.3:n.526-16T>C
ENST00000503873.6:c.304-16T>C	ENSP00000424516.2:n.304-16T>C
ENST00000509299.6:c.316-16T>C	ENSP00000425695.2:n.316-16T>C
ENST00000520095.6:c.*104-16T>C	ENSP00000429220.1:n.*104-16T>C
ENST00000642452.1:c.492-16T>C
ENST00000642752.1:c.526-16T>C	ENSP00000493630.1:n.526-16T>C
ENST00000642970.1:c.316-16T>C	ENSP00000496011.1:n.316-16T>C
ENST00000643996.1:c.316-16T>C	ENSP00000495350.1:n.316-16T>C
ENST00000645065.1:c.544-16T>C	ENSP00000493571.1:n.544-16T>C
ENST00000645749.1:c.526-16T>C	ENSP00000494296.1:n.526-16T>C
ENST00000646468.1:c.544-16T>C	ENSP00000494965.1:n.544-16T>C
ENST00000647484.1:c.316-16T>C	ENSP00000494140.1:n.316-16T>C
ENST00000230771.7:c.526-16T>C	ENSP00000230771.3:n.526-16T>C
ENST00000448069.2:c.109-16T>C	ENSP00000407105.2:n.109-16T>C
ENST00000508522.5:c.451-16T>C	ENSP00000423616.1:n.451-16T>C
ENST00000510104.5:c.*326-16T>C	ENSP00000423530.1:n.*326-16T>C
ENST00000513688.1:n.533-16T>C
ENST00000520095.5:c.*104-16T>C	ENSP00000429220.1:n.*104-16T>C
NM_001278731.1:c.451-16T>C	NP_001265660.1:n.451-16T>C
NM_001278732.1:c.94-16T>C	NP_001265661.1:n.94-16T>C
NM_012208.3:c.526-16T>C	NP_036340.1:n.526-16T>C
XM_011537619.1:c.544-16T>C	XP_011535921.1:n.544-16T>C
XM_011537620.1:c.544-16T>C	XP_011535922.1:n.544-16T>C
NM_001363535.1:c.544-16T>C	NP_001350464.1:n.544-16T>C
NM_001363536.1:c.316-16T>C	NP_001350465.1:n.316-16T>C
XM_017009288.1:c.316-16T>C	XP_016864777.1:n.316-16T>C
XM_017009289.1:c.316-16T>C	XP_016864778.1:n.316-16T>C
XM_017009290.2:c.-209-16T>C	XP_016864779.1:n.-209-16T>C
XM_017009291.1:c.-209-16T>C	XP_016864780.1:n.-209-16T>C
XM_017009292.1:c.-209-16T>C	XP_016864781.1:n.-209-16T>C
NM_012208.4:c.526-16T>C MANE Select	NP_036340.1:n.526-16T>C
NM_001278731.2:c.451-16T>C	NP_001265660.1:n.451-16T>C
NM_001278732.2:c.94-16T>C	NP_001265661.1:n.94-16T>C
NM_001363535.2:c.544-16T>C	NP_001350464.1:n.544-16T>C
NM_001363536.2:c.316-16T>C	NP_001350465.1:n.316-16T>C