Canonical Allele Identifier: CA1082227449

Gene: HARS2

Linked Data

• gnomAD v3: 5-140695379-AGTGG-A
• gnomAD v4: 5-140695379-AGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695380_140695383del , CM000667.2:g.140695380_140695383del	GRCh38
NC_000005.9:g.140074965_140074968del , CM000667.1:g.140074965_140074968del	GRCh37
NC_000005.8:g.140055149_140055152del	NCBI36
NG_021415.1:g.8948_8951del
NG_032158.1:g.1004_1007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.400-128_400-125del MANE Select	ENSP00000230771.3:n.400-128_400-125del
ENST00000503873.6:c.304-358_304-355del	ENSP00000424516.2:n.304-358_304-355del
ENST00000509299.6:c.190-128_190-125del	ENSP00000425695.2:n.190-128_190-125del
ENST00000520095.6:c.*104-358_*104-355del	ENSP00000429220.1:n.*104-358_*104-355del
ENST00000642452.1:c.366-128_366-125del
ENST00000642752.1:c.400-128_400-125del	ENSP00000493630.1:n.400-128_400-125del
ENST00000642970.1:c.190-128_190-125del	ENSP00000496011.1:n.190-128_190-125del
ENST00000643996.1:c.190-128_190-125del	ENSP00000495350.1:n.190-128_190-125del
ENST00000645065.1:c.418-128_418-125del	ENSP00000493571.1:n.418-128_418-125del
ENST00000645749.1:c.400-128_400-125del	ENSP00000494296.1:n.400-128_400-125del
ENST00000646468.1:c.418-128_418-125del	ENSP00000494965.1:n.418-128_418-125del
ENST00000647484.1:c.190-128_190-125del	ENSP00000494140.1:n.190-128_190-125del
ENST00000230771.7:c.400-128_400-125del	ENSP00000230771.3:n.400-128_400-125del
ENST00000448069.2:c.109-358_109-355del	ENSP00000407105.2:n.109-358_109-355del
ENST00000502303.5:n.483-128_483-125del
ENST00000508522.5:c.325-128_325-125del	ENSP00000423616.1:n.325-128_325-125del
ENST00000509299.5:c.418-128_418-125del	ENSP00000425695.1:n.418-128_418-125del
ENST00000510104.5:c.*200-128_*200-125del	ENSP00000423530.1:n.*200-128_*200-125del
ENST00000513688.1:n.407-128_407-125del
ENST00000520095.5:c.*104-358_*104-355del	ENSP00000429220.1:n.*104-358_*104-355del
NM_001278731.1:c.325-128_325-125del	NP_001265660.1:n.325-128_325-125del
NM_001278732.1:c.94-358_94-355del	NP_001265661.1:n.94-358_94-355del
NM_012208.3:c.400-128_400-125del	NP_036340.1:n.400-128_400-125del
XM_011537619.1:c.418-128_418-125del	XP_011535921.1:n.418-128_418-125del
XM_011537620.1:c.418-128_418-125del	XP_011535922.1:n.418-128_418-125del
NM_001363535.1:c.418-128_418-125del	NP_001350464.1:n.418-128_418-125del
NM_001363536.1:c.190-128_190-125del	NP_001350465.1:n.190-128_190-125del
XM_017009288.1:c.190-128_190-125del	XP_016864777.1:n.190-128_190-125del
XM_017009289.1:c.190-128_190-125del	XP_016864778.1:n.190-128_190-125del
XM_017009290.2:c.-335-128_-335-125del	XP_016864779.1:n.-335-128_-335-125del
XM_017009291.1:c.-335-128_-335-125del	XP_016864780.1:n.-335-128_-335-125del
XM_017009292.1:c.-335-128_-335-125del	XP_016864781.1:n.-335-128_-335-125del
NM_012208.4:c.400-128_400-125del MANE Select	NP_036340.1:n.400-128_400-125del
NM_001278731.2:c.325-128_325-125del	NP_001265660.1:n.325-128_325-125del
NM_001278732.2:c.94-358_94-355del	NP_001265661.1:n.94-358_94-355del
NM_001363535.2:c.418-128_418-125del	NP_001350464.1:n.418-128_418-125del
NM_001363536.2:c.190-128_190-125del	NP_001350465.1:n.190-128_190-125del