Canonical Allele Identifier: CA615192831
Gene: VSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1244666419
gnomAD v2: 14-74726516-C-CA
gnomAD v4: 14-74259813-C-CA
MyVariant Identifiers: chr14:g.74726516_74726517insA (hg19) chr14:g.74259813_74259814insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74259813_74259814insA , CM000676.2:g.74259813_74259814insA GRCh38
NC_000014.8:g.74726516_74726517insA , CM000676.1:g.74726516_74726517insA GRCh37
NC_000014.7:g.73796269_73796270insA NCBI36
NG_013092.1:g.25342_25343insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261980.3:c.760+31_760+32insA MANE Select ENSP00000261980.2:n.760+31_760+32insA
ENST00000261980.2:c.760+31_760+32insA ENSP00000261980.2:n.760+31_760+32insA
NM_182894.2:c.760+31_760+32insA NP_878314.1:n.760+31_760+32insA
XM_011536719.1:c.760+31_760+32insA XP_011535021.1:n.760+31_760+32insA
NM_182894.3:c.760+31_760+32insA MANE Select NP_878314.1:n.760+31_760+32insA
Search 100 bp 5'
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