Canonical Allele Identifier: CA3705587

Gene: VARS2

Linked Data

• ClinVar Variation Id: 425368
• ClinVar RCV Id: RCV000487589 ; RCV002526002 ; RCV004551599
• dbSNP Id: rs141408930
• ExAC: 6:30883561 G / A
• gnomAD v2: 6-30883561-G-A
• gnomAD v3: 6-30915784-G-A
• gnomAD v4: 6-30915784-G-A
• MyVariant Identifiers: chr6:g.30883561G>A (hg19) ; chr6:g.30915784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30915784G>A , CM000668.2:g.30915784G>A	GRCh38
NC_000006.11:g.30883561G>A , CM000668.1:g.30883561G>A	GRCh37
NC_000006.10:g.30991540G>A	NCBI36
NG_034224.1:g.6577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.423G>A	ENSP00000441000.2:p.Met141Ile
ENST00000672801.1:c.423G>A	ENSP00000500615.1:p.Met141Ile
ENST00000676266.1:c.423G>A MANE Select	ENSP00000502585.1:p.Met141Ile
ENST00000321897.9:c.423G>A	ENSP00000316092.5:p.Met141Ile
ENST00000428017.5:c.423G>A	ENSP00000403749.1:p.Met141Ile
ENST00000467717.5:n.301G>A
ENST00000477288.5:n.3011G>A
ENST00000541562.5:c.513G>A	ENSP00000441000.1:p.Met171Ile
ENST00000542001.5:c.423G>A	ENSP00000438200.2:p.Met141Ile
ENST00000625423.2:c.3G>A	ENSP00000485818.1:p.Met1Ile
NM_001167733.2:c.3G>A	NP_001161205.1:p.Met1Ile
NM_001167734.1:c.513G>A	NP_001161206.1:p.Met171Ile
NM_020442.5:c.423G>A	NP_065175.4:p.Met141Ile
NM_001167733.3:c.3G>A	NP_001161205.1:p.Met1Ile
NM_001167734.2:c.513G>A	NP_001161206.1:p.Met171Ile
NM_020442.6:c.423G>A MANE Select	NP_065175.4:p.Met141Ile