Canonical Allele Identifier: CA6153741
Community Standard Title: NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68935359G>A , CM000673.2:g.68935359G>A GRCh38
NC_000011.9:g.68702827G>A , CM000673.1:g.68702827G>A GRCh37
NC_000011.8:g.68459403G>A NCBI36
NG_007976.1:g.36509G>A , LRG_250:g.36509G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.1693G>A MANE Select NP_002171.2:p.Asp565Asn
ENST00000255078.8:c.1693G>A MANE Select ENSP00000255078.4:p.Asp565Asn
NM_002180.2:c.1693G>A , LRG_250t1:c.1693G>A NP_002171.2:p.Asp565Asn
ENST00000255078.7:c.1693G>A ENSP00000255078.3:p.Asp565Asn
ENST00000539064.5:n.1452G>A
ENST00000541229.5:n.388G>A
ENST00000543739.5:n.749+801G>A
ENST00000545475.1:n.289G>A
ENST00000674955.1:c.*410G>A ENSP00000502463.1:n.*410G>A
ENST00000675118.1:c.1181G>A
ENST00000675615.1:c.1693G>A ENSP00000502413.1:p.Asp565Asn
ENST00000675648.1:n.1068G>A
ENST00000676173.1:n.2438G>A
ENST00000676182.1:c.124G>A
ENST00000676228.1:c.*1016G>A ENSP00000502375.1:n.*1016G>A
XM_005273974.2:c.682G>A XP_005274031.1:p.Asp228Asn
XM_005273975.2:c.565G>A XP_005274032.1:p.Asp189Asn
XM_005273975.3:c.565G>A XP_005274032.1:p.Asp189Asn
XM_011544994.1:c.460G>A XP_011543296.1:p.Asp154Asn
XM_017017669.2:c.682G>A XP_016873158.1:p.Asp228Asn
XM_017017670.2:c.682G>A XP_016873159.1:p.Asp228Asn
XM_017017671.2:c.*20G>A XP_016873160.1:n.*20G>A
XR_949903.1:n.1795G>A
XR_949903.3:n.1791G>A