Canonical Allele Identifier: CA475186229
Community Standard Title: NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908191G>A , CM000673.2:g.68908191G>A GRCh38
NC_000011.9:g.68675659G>A , CM000673.1:g.68675659G>A GRCh37
NC_000011.8:g.68432235G>A NCBI36
NG_007976.1:g.9341G>A , LRG_250:g.9341G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.303G>A MANE Select NP_002171.2:p.Leu101=
ENST00000255078.8:c.303G>A MANE Select ENSP00000255078.4:p.Leu101=
NM_002180.2:c.303G>A , LRG_250t1:c.303G>A NP_002171.2:p.Leu101=
ENST00000255078.7:c.303G>A ENSP00000255078.3:p.Leu101=
ENST00000539224.1:c.303G>A ENSP00000440465.1:p.Leu101=
ENST00000539224.2:c.266G>A
ENST00000544541.1:c.*43G>A ENSP00000443343.1:n.*43G>A
ENST00000545146.1:c.*173G>A ENSP00000456366.1:n.*173G>A
ENST00000674583.1:c.266G>A
ENST00000674597.1:c.114G>A
ENST00000674955.1:c.303G>A ENSP00000502463.1:p.Leu101=
ENST00000675142.1:n.266G>A
ENST00000675469.1:c.179G>A
ENST00000675615.1:c.303G>A ENSP00000502413.1:p.Leu101=
ENST00000675674.1:n.266G>A
ENST00000675873.1:c.266G>A
ENST00000676173.1:n.347G>A
ENST00000676228.1:c.303G>A ENSP00000502375.1:p.Leu101=
XM_005273974.2:c.-709G>A XP_005274031.1:n.-709G>A
XM_005273976.1:c.303G>A XP_005274033.1:p.Leu101=
XM_005273976.2:c.303G>A XP_005274033.1:p.Leu101=
XM_017017669.2:c.-611G>A XP_016873158.1:n.-611G>A
XM_017017671.2:c.303G>A XP_016873160.1:p.Leu101=
XR_247198.1:n.405G>A
XR_949903.1:n.405G>A
XR_949903.3:n.401G>A