Canonical Allele Identifier: CA350908

Gene: HARS2

Linked Data

• ClinVar Variation Id: 208286
• ClinVar RCV Id: RCV000206915 ; RCV002517027
• dbSNP Id: rs376177973
• ExAC: 5:140076896 G / T
• gnomAD v2: 5-140076896-G-T
• gnomAD v3: 5-140697311-G-T
• gnomAD v4: 5-140697311-G-T
• MyVariant Identifiers: chr5:g.140076896G>T (hg19) ; chr5:g.140697311G>T (hg38)
• PubMed: PMID:21464306

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140697311G>T , CM000667.2:g.140697311G>T	GRCh38
NC_000005.9:g.140076896G>T , CM000667.1:g.140076896G>T	GRCh37
NC_000005.8:g.140057080G>T	NCBI36
NG_021415.1:g.10879G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230771.9:c.1102G>T MANE Select	ENSP00000230771.3:p.Val368Leu
ENST00000503873.6:c.781G>T	ENSP00000424516.2:p.Val261Leu
ENST00000520095.6:c.*680G>T	ENSP00000429220.1:n.*680G>T
ENST00000642452.1:c.1142G>T
ENST00000642752.1:c.1003G>T	ENSP00000493630.1:p.Val335Leu
ENST00000642970.1:c.892G>T	ENSP00000496011.1:p.Val298Leu
ENST00000643996.1:c.892G>T	ENSP00000495350.1:p.Val298Leu
ENST00000645065.1:c.1120G>T	ENSP00000493571.1:p.Val374Leu
ENST00000645749.1:c.1102G>T	ENSP00000494296.1:p.Val368Leu
ENST00000646468.1:c.1120G>T	ENSP00000494965.1:p.Val374Leu
ENST00000647484.1:c.*483G>T	ENSP00000494140.1:n.*483G>T
ENST00000230771.7:c.1102G>T	ENSP00000230771.3:p.Val368Leu
ENST00000448069.2:c.586G>T	ENSP00000407105.2:p.Val196Leu
ENST00000508522.5:c.1027G>T	ENSP00000423616.1:p.Val343Leu
NM_001278731.1:c.1027G>T	NP_001265660.1:p.Val343Leu
NM_001278732.1:c.670G>T	NP_001265661.1:p.Val224Leu
NM_012208.3:c.1102G>T	NP_036340.1:p.Val368Leu
XM_011537619.1:c.1120G>T	XP_011535921.1:p.Val374Leu
XM_011537620.1:c.1021G>T	XP_011535922.1:p.Val341Leu
NM_001363535.1:c.1120G>T	NP_001350464.1:p.Val374Leu
NM_001363536.1:c.892G>T	NP_001350465.1:p.Val298Leu
XM_017009288.1:c.892G>T	XP_016864777.1:p.Val298Leu
XM_017009289.1:c.892G>T	XP_016864778.1:p.Val298Leu
XM_017009290.2:c.442G>T	XP_016864779.1:p.Val148Leu
XM_017009291.1:c.442G>T	XP_016864780.1:p.Val148Leu
XM_017009292.1:c.442G>T	XP_016864781.1:p.Val148Leu
NM_012208.4:c.1102G>T MANE Select	NP_036340.1:p.Val368Leu
NM_001278731.2:c.1027G>T	NP_001265660.1:p.Val343Leu
NM_001278732.2:c.670G>T	NP_001265661.1:p.Val224Leu
NM_001363535.2:c.1120G>T	NP_001350464.1:p.Val374Leu
NM_001363536.2:c.892G>T	NP_001350465.1:p.Val298Leu