Canonical Allele Identifier: CA7238023

Gene: ARG2 VTI1B GPHN

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=