Canonical Allele Identifier: CA475280764
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704258C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936790C>T , CM000673.2:g.68936790C>T GRCh38
NC_000011.9:g.68704258C>T , CM000673.1:g.68704258C>T GRCh37
NC_000011.8:g.68460834C>T NCBI36
NG_007976.1:g.37940C>T , LRG_250:g.37940C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2310C>T MANE Select ENSP00000255078.4:p.Asp770=
ENST00000674675.1:c.554C>T
ENST00000674878.1:c.547+7C>T
ENST00000674955.1:c.*1027C>T ENSP00000502463.1:n.*1027C>T
ENST00000675118.1:c.1798C>T
ENST00000675389.1:n.585C>T
ENST00000675615.1:c.2310C>T ENSP00000502413.1:p.Asp770=
ENST00000675648.1:n.1685C>T
ENST00000675916.1:c.554C>T
ENST00000676173.1:n.3055C>T
ENST00000676182.1:c.741C>T
ENST00000676228.1:c.*1633C>T ENSP00000502375.1:n.*1633C>T
ENST00000255078.7:c.2310C>T ENSP00000255078.3:p.Asp770=
ENST00000539064.5:n.2069C>T
ENST00000543739.5:n.1303C>T
NM_002180.2:c.2310C>T , LRG_250t1:c.2310C>T NP_002171.2:p.Asp770=
XM_005273974.2:c.1299C>T XP_005274031.1:p.Asp433=
XM_005273975.2:c.1182C>T XP_005274032.1:p.Asp394=
XM_011544994.1:c.1077C>T XP_011543296.1:p.Asp359=
XR_949903.1:n.2412C>T
XM_005273975.3:c.1182C>T XP_005274032.1:p.Asp394=
XM_017017669.2:c.1299C>T XP_016873158.1:p.Asp433=
XM_017017670.2:c.1299C>T XP_016873159.1:p.Asp433=
XR_949903.3:n.2408C>T
NM_002180.3:c.2310C>T MANE Select NP_002171.2:p.Asp770=