Canonical Allele Identifier: CA10653220
Community Standard Title: NM_006420.3(ARFGEF2):c.*2451A>C
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49035650A>C , CM000682.2:g.49035650A>C GRCh38
NC_000020.10:g.47652187A>C , CM000682.1:g.47652187A>C GRCh37
NC_000020.9:g.47085594A>C NCBI36
NG_011490.1:g.118913A>C
NG_011490.2:g.118913A>C

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.*2451A>C MANE Select NP_006411.2:n.*2451A>C
ENST00000371917.5:c.*2451A>C MANE Select ENSP00000360985.4:n.*2451A>C
NM_006420.2:c.*2451A>C NP_006411.2:n.*2451A>C
ENST00000371917.4:c.7809A>C ENSP00000360985.4:n.7809A>C
ENST00000679436.1:c.7806A>C ENSP00000504888.1:n.7806A>C
ENST00000679542.1:n.7498A>C
ENST00000680130.1:n.3480A>C
ENST00000681119.1:n.4543A>C
ENST00000681399.1:c.*7486A>C ENSP00000506363.1:n.*7486A>C
XM_005260252.2:c.*2451A>C XP_005260309.1:n.*2451A>C
XM_005260252.3:c.*2451A>C XP_005260309.1:n.*2451A>C