Canonical Allele Identifier: CA381644886
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917811C>G , CM000673.2:g.68917811C>G GRCh38
NC_000011.9:g.68685279C>G , CM000673.1:g.68685279C>G GRCh37
NC_000011.8:g.68441855C>G NCBI36
NG_007976.1:g.18961C>G , LRG_250:g.18961C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.988C>G MANE Select ENSP00000255078.4:p.Leu330Val
ENST00000674745.1:c.76C>G ENSP00000502738.1:p.Leu26Val
ENST00000674775.1:n.76C>G
ENST00000674955.1:c.988C>G ENSP00000502463.1:p.Leu330Val
ENST00000675118.1:c.476C>G
ENST00000675119.1:c.415C>G ENSP00000501861.1:n.415C>G
ENST00000675305.1:c.308C>G ENSP00000502365.1:n.308C>G
ENST00000675464.1:c.271C>G ENSP00000502650.1:p.Leu91Val
ENST00000675493.1:n.76C>G
ENST00000675615.1:c.988C>G ENSP00000502413.1:p.Leu330Val
ENST00000675648.1:n.363C>G
ENST00000675683.1:c.375C>G
ENST00000675684.1:c.76C>G ENSP00000502192.1:p.Leu26Val
ENST00000676173.1:n.1032C>G
ENST00000676228.1:c.*311C>G ENSP00000502375.1:n.*311C>G
ENST00000255078.7:c.988C>G ENSP00000255078.3:p.Leu330Val
NM_002180.2:c.988C>G , LRG_250t1:c.988C>G NP_002171.2:p.Leu330Val
XM_005273974.2:c.-24C>G XP_005274031.1:n.-24C>G
XM_005273976.1:c.988C>G XP_005274033.1:p.Leu330Val
XR_247198.1:n.1090C>G
XR_949903.1:n.1090C>G
XM_005273976.2:c.988C>G XP_005274033.1:p.Leu330Val
XM_017017669.2:c.-24C>G XP_016873158.1:n.-24C>G
XM_017017670.2:c.-24C>G XP_016873159.1:n.-24C>G
XM_017017671.2:c.988C>G XP_016873160.1:p.Leu330Val
XR_949903.3:n.1086C>G
NM_002180.3:c.988C>G MANE Select NP_002171.2:p.Leu330Val