Canonical Allele Identifier: CA381652615
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936485C>T , CM000673.2:g.68936485C>T GRCh38
NC_000011.9:g.68703953C>T , CM000673.1:g.68703953C>T GRCh37
NC_000011.8:g.68460529C>T NCBI36
NG_007976.1:g.37635C>T , LRG_250:g.37635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2005C>T MANE Select ENSP00000255078.4:p.Pro669Ser
ENST00000674675.1:c.249C>T
ENST00000674878.1:c.249C>T
ENST00000674955.1:c.*722C>T ENSP00000502463.1:n.*722C>T
ENST00000675118.1:c.1493C>T
ENST00000675389.1:n.280C>T
ENST00000675615.1:c.2005C>T ENSP00000502413.1:p.Pro669Ser
ENST00000675648.1:n.1380C>T
ENST00000675916.1:c.249C>T
ENST00000676173.1:n.2750C>T
ENST00000676182.1:c.436C>T
ENST00000676228.1:c.*1328C>T ENSP00000502375.1:n.*1328C>T
ENST00000255078.7:c.2005C>T ENSP00000255078.3:p.Pro669Ser
ENST00000539064.5:n.1764C>T
ENST00000543739.5:n.998C>T
NM_002180.2:c.2005C>T , LRG_250t1:c.2005C>T NP_002171.2:p.Pro669Ser
XM_005273974.2:c.994C>T XP_005274031.1:p.Pro332Ser
XM_005273975.2:c.877C>T XP_005274032.1:p.Pro293Ser
XM_011544994.1:c.772C>T XP_011543296.1:p.Pro258Ser
XR_949903.1:n.2107C>T
XM_005273975.3:c.877C>T XP_005274032.1:p.Pro293Ser
XM_017017669.2:c.994C>T XP_016873158.1:p.Pro332Ser
XM_017017670.2:c.994C>T XP_016873159.1:p.Pro332Ser
XR_949903.3:n.2103C>T
NM_002180.3:c.2005C>T MANE Select NP_002171.2:p.Pro669Ser