Canonical Allele Identifier: CA8074877
Community Standard Title: NM_012106.4(ARL2BP):c.207+1G>T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57248644G>T , CM000678.2:g.57248644G>T GRCh38
NC_000016.9:g.57282556G>T , CM000678.1:g.57282556G>T GRCh37
NC_000016.8:g.55840057G>T NCBI36
NG_033905.1:g.8519G>T

Transcript Alleles

HGVS Amino-acid Change
NM_012106.4:c.207+1G>T (ARL2BP) MANE Select NP_036238.1:n.207+1G>T
ENST00000219204.8:c.207+1G>T (ARL2BP) MANE Select ENSP00000219204.3:n.207+1G>T
NM_012106.3:c.207+1G>T (ARL2BP) NP_036238.1:n.207+1G>T
ENST00000219204.7:c.207+1G>T (ARL2BP) ENSP00000219204.3:n.207+1G>T
ENST00000562023.5:c.101-1136G>T (ARL2BP) ENSP00000457465.1:n.101-1136G>T
ENST00000563234.1:c.199+1G>T (ARL2BP)
ENST00000564376.1:n.321-18C>A (PLLP)
XM_011522977.1:c.111+1G>T (ARL2BP) XP_011521279.1:n.111+1G>T