Canonical Allele Identifier: CA381643503

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68676045T>G (hg19) ; chr11:g.68908577T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908577T>G , CM000673.2:g.68908577T>G	GRCh38
NC_000011.9:g.68676045T>G , CM000673.1:g.68676045T>G	GRCh37
NC_000011.8:g.68432621T>G	NCBI36
NG_007976.1:g.9727T>G , LRG_250:g.9727T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.493T>G MANE Select	ENSP00000255078.4:p.Ser165Ala
ENST00000539224.2:c.456T>G
ENST00000674583.1:c.456T>G
ENST00000674597.1:c.304T>G
ENST00000674955.1:c.493T>G	ENSP00000502463.1:p.Ser165Ala
ENST00000675142.1:n.456T>G
ENST00000675469.1:c.369T>G
ENST00000675615.1:c.493T>G	ENSP00000502413.1:p.Ser165Ala
ENST00000675674.1:n.456T>G
ENST00000675683.1:c.44T>G
ENST00000675873.1:c.456T>G
ENST00000676173.1:n.537T>G
ENST00000676228.1:c.449+240T>G	ENSP00000502375.1:n.449+240T>G
ENST00000255078.7:c.493T>G	ENSP00000255078.3:p.Ser165Ala
ENST00000539224.1:c.449+240T>G	ENSP00000440465.1:n.449+240T>G
ENST00000544541.1:c.*233T>G	ENSP00000443343.1:n.*233T>G
NM_002180.2:c.493T>G , LRG_250t1:c.493T>G	NP_002171.2:p.Ser165Ala
XM_005273974.2:c.-519T>G	XP_005274031.1:n.-519T>G
XM_005273976.1:c.493T>G	XP_005274033.1:p.Ser165Ala
XR_247198.1:n.595T>G
XR_949903.1:n.595T>G
XM_005273976.2:c.493T>G	XP_005274033.1:p.Ser165Ala
XM_017017669.2:c.-465+240T>G	XP_016873158.1:n.-465+240T>G
XM_017017671.2:c.493T>G	XP_016873160.1:p.Ser165Ala
XR_949903.3:n.591T>G
NM_002180.3:c.493T>G MANE Select	NP_002171.2:p.Ser165Ala