Canonical Allele Identifier: CA7238023
Gene: ARG2 HGNC NCBI
VTI1B HGNC NCBI
GPHN HGNC NCBI
COSMIC:
COSM147800 (not active)
MyVariant.info:
GRCh38 chr14:g.67651415C>T
GRCh37 chr14:g.68118132C>T
gnomAD v2:
14:68118132 C / T
gnomAD v3:
14:67651415 C / T
gnomAD v4:
chr14-67651415-C-T
Joint Max Group AF 0.22656842 (EAS)
Genomes Max Group AF 0.22035719 (EAS)
Exomes Max Group AF 0.22621043 (EAS)
dbSNP:
15493
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67651415C>T , CM000676.2:g.67651415C>T GRCh38
NC_000014.8:g.68118132C>T , CM000676.1:g.68118132C>T GRCh37
NC_000014.7:g.67187885C>T NCBI36
NG_011964.1:g.36554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261783.4:c.*495C>T (ARG2) MANE Select ENSP00000261783.3:n.*495C>T
ENST00000554659.6:c.669G>A (VTI1B) MANE Select ENSP00000450731.1:p.Leu223=
ENST00000216456.6:c.*696G>A (VTI1B) ENSP00000216456.6:n.*696G>A
ENST00000261783.3:c.*495C>T (ARG2) ENSP00000261783.3:n.*495C>T
ENST00000554636.1:c.302G>A (VTI1B)
ENST00000554659.5:c.669G>A (VTI1B) ENSP00000450731.1:p.Leu223=
ENST00000556461.1:c.422G>A (VTI1B)
NM_001172.3:c.*495C>T (ARG2) NP_001163.1:n.*495C>T
NM_006370.2:c.669G>A (VTI1B) NP_006361.1:p.Leu223=
XM_017020925.2:c.1313-83780C>T (GPHN) XP_016876414.1:n.1313-83780C>T
NM_001172.4:c.*495C>T (ARG2) MANE Select NP_001163.1:n.*495C>T
NM_006370.3:c.669G>A (VTI1B) MANE Select NP_006361.1:p.Leu223=
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