Canonical Allele Identifier: CA6154054
Community Standard Title: NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68939630C>T , CM000673.2:g.68939630C>T GRCh38
NC_000011.9:g.68707098C>T , CM000673.1:g.68707098C>T GRCh37
NC_000011.8:g.68463674C>T NCBI36
NG_007976.1:g.40780C>T , LRG_250:g.40780C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.2881C>T MANE Select NP_002171.2:p.Leu961=
ENST00000255078.8:c.2881C>T MANE Select ENSP00000255078.4:p.Leu961=
NM_002180.2:c.2881C>T , LRG_250t1:c.2881C>T NP_002171.2:p.Leu961=
ENST00000255078.7:c.2881C>T ENSP00000255078.3:p.Leu961=
ENST00000543739.5:n.1874C>T
ENST00000544521.1:n.712C>T
ENST00000675118.1:c.2369C>T
ENST00000675615.1:c.*80C>T ENSP00000502413.1:n.*80C>T
ENST00000675648.1:n.2443C>T
ENST00000675916.1:c.1312C>T
ENST00000676173.1:n.3626C>T
XM_005273974.2:c.1870C>T XP_005274031.1:p.Leu624=
XM_005273975.2:c.1753C>T XP_005274032.1:p.Leu585=
XM_005273975.3:c.1753C>T XP_005274032.1:p.Leu585=
XM_011544994.1:c.1648C>T XP_011543296.1:p.Leu550=
XM_017017669.2:c.1870C>T XP_016873158.1:p.Leu624=
XM_017017670.2:c.1870C>T XP_016873159.1:p.Leu624=
XR_949903.1:n.3170C>T
XR_949903.3:n.3166C>T