Canonical Allele Identifier: CA475192423

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1378800448
• gnomAD v2: 11-68682342-C-T
• gnomAD v3: 11-68914874-C-T
• gnomAD v4: 11-68914874-C-T
• MyVariant Identifiers: chr11:g.68682342C>T (hg19) ; chr11:g.68914874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914874C>T , CM000673.2:g.68914874C>T	GRCh38
NC_000011.9:g.68682342C>T , CM000673.1:g.68682342C>T	GRCh37
NC_000011.8:g.68438918C>T	NCBI36
NG_007976.1:g.16024C>T , LRG_250:g.16024C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.763C>T MANE Select	ENSP00000255078.4:p.Leu255=
ENST00000539224.2:c.892C>T
ENST00000674955.1:c.763C>T	ENSP00000502463.1:p.Leu255=
ENST00000675118.1:c.110C>T
ENST00000675119.1:c.52C>T	ENSP00000501861.1:p.Leu18=
ENST00000675305.1:c.52C>T	ENSP00000502365.1:p.Leu18=
ENST00000675464.1:c.52C>T	ENSP00000502650.1:p.Leu18=
ENST00000675615.1:c.763C>T	ENSP00000502413.1:p.Leu255=
ENST00000675683.1:c.150C>T
ENST00000676173.1:n.807C>T
ENST00000676228.1:c.*86C>T	ENSP00000502375.1:n.*86C>T
ENST00000676239.1:n.77C>T
ENST00000255078.7:c.763C>T	ENSP00000255078.3:p.Leu255=
ENST00000539224.1:c.*86C>T	ENSP00000440465.1:n.*86C>T
NM_002180.2:c.763C>T , LRG_250t1:c.763C>T	NP_002171.2:p.Leu255=
XM_005273974.2:c.-249C>T	XP_005274031.1:n.-249C>T
XM_005273976.1:c.763C>T	XP_005274033.1:p.Leu255=
XR_247198.1:n.865C>T
XR_949903.1:n.865C>T
XM_005273976.2:c.763C>T	XP_005274033.1:p.Leu255=
XM_017017669.2:c.-249C>T	XP_016873158.1:n.-249C>T
XM_017017670.2:c.-249C>T	XP_016873159.1:n.-249C>T
XM_017017671.2:c.763C>T	XP_016873160.1:p.Leu255=
XR_949903.3:n.861C>T
NM_002180.3:c.763C>T MANE Select	NP_002171.2:p.Leu255=