Canonical Allele Identifier: CA10646017

Gene: VSX2

Linked Data

• ClinVar Variation Id: 314213
• ClinVar RCV Id: RCV000272644 ; RCV000330134
• dbSNP Id: rs12588074
• gnomAD v2: 14-74728201-C-T
• gnomAD v3: 14-74261498-C-T
• gnomAD v4: 14-74261498-C-T
• MyVariant Identifiers: chr14:g.74728201C>T (hg19) ; chr14:g.74261498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74261498C>T , CM000676.2:g.74261498C>T	GRCh38
NC_000014.8:g.74728201C>T , CM000676.1:g.74728201C>T	GRCh37
NC_000014.7:g.73797954C>T	NCBI36
NG_013092.1:g.27027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261980.3:c.*579C>T MANE Select	ENSP00000261980.2:n.*579C>T
ENST00000261980.2:c.*579C>T	ENSP00000261980.2:n.*579C>T
NM_182894.2:c.*579C>T	NP_878314.1:n.*579C>T
XM_011536719.1:c.1722C>T	XP_011535021.1:n.1722C>T
NM_182894.3:c.*579C>T MANE Select	NP_878314.1:n.*579C>T