Canonical Allele Identifier: CA381644483
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68914958G>T , CM000673.2:g.68914958G>T GRCh38
NC_000011.9:g.68682426G>T , CM000673.1:g.68682426G>T GRCh37
NC_000011.8:g.68439002G>T NCBI36
NG_007976.1:g.16108G>T , LRG_250:g.16108G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.847G>T MANE Select ENSP00000255078.4:p.Val283Phe
ENST00000539224.2:c.976G>T
ENST00000674955.1:c.847G>T ENSP00000502463.1:p.Val283Phe
ENST00000675118.1:c.194G>T
ENST00000675119.1:c.136G>T ENSP00000501861.1:p.Val46Phe
ENST00000675305.1:c.136G>T ENSP00000502365.1:p.Val46Phe
ENST00000675464.1:c.136G>T ENSP00000502650.1:p.Val46Phe
ENST00000675615.1:c.847G>T ENSP00000502413.1:p.Val283Phe
ENST00000675683.1:c.234G>T
ENST00000676173.1:n.891G>T
ENST00000676228.1:c.*170G>T ENSP00000502375.1:n.*170G>T
ENST00000676239.1:n.161G>T
ENST00000255078.7:c.847G>T ENSP00000255078.3:p.Val283Phe
NM_002180.2:c.847G>T , LRG_250t1:c.847G>T NP_002171.2:p.Val283Phe
XM_005273974.2:c.-165G>T XP_005274031.1:n.-165G>T
XM_005273976.1:c.847G>T XP_005274033.1:p.Val283Phe
XR_247198.1:n.949G>T
XR_949903.1:n.949G>T
XM_005273976.2:c.847G>T XP_005274033.1:p.Val283Phe
XM_017017669.2:c.-165G>T XP_016873158.1:n.-165G>T
XM_017017670.2:c.-165G>T XP_016873159.1:n.-165G>T
XM_017017671.2:c.847G>T XP_016873160.1:p.Val283Phe
XR_949903.3:n.945G>T
NM_002180.3:c.847G>T MANE Select NP_002171.2:p.Val283Phe