Canonical Allele Identifier: CA381644504

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68682438A>T (hg19) ; chr11:g.68914970A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914970A>T , CM000673.2:g.68914970A>T	GRCh38
NC_000011.9:g.68682438A>T , CM000673.1:g.68682438A>T	GRCh37
NC_000011.8:g.68439014A>T	NCBI36
NG_007976.1:g.16120A>T , LRG_250:g.16120A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.859A>T MANE Select	ENSP00000255078.4:p.Ser287Cys
ENST00000539224.2:c.988A>T
ENST00000674955.1:c.859A>T	ENSP00000502463.1:p.Ser287Cys
ENST00000675118.1:c.206A>T
ENST00000675119.1:c.148A>T	ENSP00000501861.1:p.Ser50Cys
ENST00000675305.1:c.148A>T	ENSP00000502365.1:p.Ser50Cys
ENST00000675464.1:c.148A>T	ENSP00000502650.1:p.Ser50Cys
ENST00000675615.1:c.859A>T	ENSP00000502413.1:p.Ser287Cys
ENST00000675683.1:c.246A>T
ENST00000676173.1:n.903A>T
ENST00000676228.1:c.*182A>T	ENSP00000502375.1:n.*182A>T
ENST00000676239.1:n.173A>T
ENST00000255078.7:c.859A>T	ENSP00000255078.3:p.Ser287Cys
NM_002180.2:c.859A>T , LRG_250t1:c.859A>T	NP_002171.2:p.Ser287Cys
XM_005273974.2:c.-153A>T	XP_005274031.1:n.-153A>T
XM_005273976.1:c.859A>T	XP_005274033.1:p.Ser287Cys
XR_247198.1:n.961A>T
XR_949903.1:n.961A>T
XM_005273976.2:c.859A>T	XP_005274033.1:p.Ser287Cys
XM_017017669.2:c.-153A>T	XP_016873158.1:n.-153A>T
XM_017017670.2:c.-153A>T	XP_016873159.1:n.-153A>T
XM_017017671.2:c.859A>T	XP_016873160.1:p.Ser287Cys
XR_949903.3:n.957A>T
NM_002180.3:c.859A>T MANE Select	NP_002171.2:p.Ser287Cys