Canonical Allele Identifier: CA381649925

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701318G>T (hg19) ; chr11:g.68933850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933850G>T , CM000673.2:g.68933850G>T	GRCh38
NC_000011.9:g.68701318G>T , CM000673.1:g.68701318G>T	GRCh37
NC_000011.8:g.68457894G>T	NCBI36
NG_007976.1:g.35000G>T , LRG_250:g.35000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1474G>T MANE Select	ENSP00000255078.4:p.Asp492Tyr
ENST00000674955.1:c.*191G>T	ENSP00000502463.1:n.*191G>T
ENST00000675118.1:c.962G>T
ENST00000675205.1:n.183+369G>T
ENST00000675615.1:c.1474G>T	ENSP00000502413.1:p.Asp492Tyr
ENST00000675648.1:n.849G>T
ENST00000675997.1:n.113-614G>T
ENST00000676173.1:n.2219G>T
ENST00000676228.1:c.*797G>T	ENSP00000502375.1:n.*797G>T
ENST00000255078.7:c.1474G>T	ENSP00000255078.3:p.Asp492Tyr
ENST00000537458.5:n.591G>T
ENST00000539064.5:n.1233G>T
ENST00000541229.5:n.169G>T
ENST00000543739.5:n.591G>T
NM_002180.2:c.1474G>T , LRG_250t1:c.1474G>T	NP_002171.2:p.Asp492Tyr
XM_005273974.2:c.463G>T	XP_005274031.1:p.Asp155Tyr
XM_005273975.2:c.346G>T	XP_005274032.1:p.Asp116Tyr
XM_011544994.1:c.241G>T	XP_011543296.1:p.Asp81Tyr
XR_949903.1:n.1576G>T
XM_005273975.3:c.346G>T	XP_005274032.1:p.Asp116Tyr
XM_017017669.2:c.463G>T	XP_016873158.1:p.Asp155Tyr
XM_017017670.2:c.463G>T	XP_016873159.1:p.Asp155Tyr
XM_017017671.2:c.1474G>T	XP_016873160.1:p.Asp492Tyr
XR_949903.3:n.1572G>T
NM_002180.3:c.1474G>T MANE Select	NP_002171.2:p.Asp492Tyr