Canonical Allele Identifier: CA745134118
Community Standard Title: NM_006420.3(ARFGEF2):c.*2692C>T
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49035891C>T , CM000682.2:g.49035891C>T GRCh38
NC_000020.10:g.47652428C>T , CM000682.1:g.47652428C>T GRCh37
NC_000020.9:g.47085835C>T NCBI36
NG_011490.1:g.119154C>T
NG_011490.2:g.119154C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.*2692C>T MANE Select NP_006411.2:n.*2692C>T
ENST00000371917.5:c.*2692C>T MANE Select ENSP00000360985.4:n.*2692C>T
NM_006420.2:c.*2692C>T NP_006411.2:n.*2692C>T
ENST00000371917.4:c.8050C>T ENSP00000360985.4:n.8050C>T
ENST00000679436.1:c.8047C>T ENSP00000504888.1:n.8047C>T
ENST00000679542.1:n.7739C>T
ENST00000680130.1:n.3721C>T
ENST00000681119.1:n.4784C>T
ENST00000681399.1:c.*7727C>T ENSP00000506363.1:n.*7727C>T
XM_005260252.2:c.*2692C>T XP_005260309.1:n.*2692C>T
XM_005260252.3:c.*2692C>T XP_005260309.1:n.*2692C>T