Canonical Allele Identifier: CA3706247

Gene: VARS2

Linked Data

• ClinVar Variation Id: 559215
• ClinVar RCV Id: RCV000676496
• dbSNP Id: rs183132980
• ExAC: 6:30891146 C / T
• gnomAD v2: 6-30891146-C-T
• gnomAD v3: 6-30923369-C-T
• gnomAD v4: 6-30923369-C-T
• MyVariant Identifiers: chr6:g.30891146C>T (hg19) ; chr6:g.30923369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923369C>T , CM000668.2:g.30923369C>T	GRCh38
NC_000006.11:g.30891146C>T , CM000668.1:g.30891146C>T	GRCh37
NC_000006.10:g.30999125C>T	NCBI36
NG_034224.1:g.14162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2330C>T	ENSP00000441000.2:p.Pro777Leu
ENST00000672801.1:c.2324C>T	ENSP00000500615.1:p.Pro775Leu
ENST00000676266.1:c.2330C>T MANE Select	ENSP00000502585.1:p.Pro777Leu
ENST00000321897.9:c.2330C>T	ENSP00000316092.5:p.Pro777Leu
ENST00000469358.5:n.2318C>T
ENST00000473916.1:n.41C>T
ENST00000476162.5:n.1117C>T
ENST00000477052.1:n.416C>T
ENST00000477288.5:n.4943C>T
ENST00000541562.5:c.2420C>T	ENSP00000441000.1:p.Pro807Leu
ENST00000542001.5:c.2324C>T	ENSP00000438200.2:p.Pro775Leu
ENST00000625423.2:c.1910C>T	ENSP00000485818.1:p.Pro637Leu
NM_001167733.2:c.1910C>T	NP_001161205.1:p.Pro637Leu
NM_001167734.1:c.2420C>T	NP_001161206.1:p.Pro807Leu
NM_020442.5:c.2330C>T	NP_065175.4:p.Pro777Leu
NM_001167733.3:c.1910C>T	NP_001161205.1:p.Pro637Leu
NM_001167734.2:c.2420C>T	NP_001161206.1:p.Pro807Leu
NM_020442.6:c.2330C>T MANE Select	NP_065175.4:p.Pro777Leu