Canonical Allele Identifier: CA475204399

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1293033351
• gnomAD v2: 11-68703874-T-C
• MyVariant Identifiers: chr11:g.68703874T>C (hg19) ; chr11:g.68936406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936406T>C , CM000673.2:g.68936406T>C	GRCh38
NC_000011.9:g.68703874T>C , CM000673.1:g.68703874T>C	GRCh37
NC_000011.8:g.68460450T>C	NCBI36
NG_007976.1:g.37556T>C , LRG_250:g.37556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1926T>C MANE Select	ENSP00000255078.4:p.Tyr642=
ENST00000674675.1:c.170T>C
ENST00000674878.1:c.170T>C
ENST00000674955.1:c.*643T>C	ENSP00000502463.1:n.*643T>C
ENST00000675118.1:c.1414T>C
ENST00000675389.1:n.201T>C
ENST00000675615.1:c.1926T>C	ENSP00000502413.1:p.Tyr642=
ENST00000675648.1:n.1301T>C
ENST00000675916.1:c.170T>C
ENST00000676173.1:n.2671T>C
ENST00000676182.1:c.357T>C
ENST00000676228.1:c.*1249T>C	ENSP00000502375.1:n.*1249T>C
ENST00000255078.7:c.1926T>C	ENSP00000255078.3:p.Tyr642=
ENST00000539064.5:n.1685T>C
ENST00000543739.5:n.919T>C
ENST00000545475.1:n.522T>C
NM_002180.2:c.1926T>C , LRG_250t1:c.1926T>C	NP_002171.2:p.Tyr642=
XM_005273974.2:c.915T>C	XP_005274031.1:p.Tyr305=
XM_005273975.2:c.798T>C	XP_005274032.1:p.Tyr266=
XM_011544994.1:c.693T>C	XP_011543296.1:p.Tyr231=
XR_949903.1:n.2028T>C
XM_005273975.3:c.798T>C	XP_005274032.1:p.Tyr266=
XM_017017669.2:c.915T>C	XP_016873158.1:p.Tyr305=
XM_017017670.2:c.915T>C	XP_016873159.1:p.Tyr305=
XR_949903.3:n.2024T>C
NM_002180.3:c.1926T>C MANE Select	NP_002171.2:p.Tyr642=