Canonical Allele Identifier: CA487169456

Gene: LTBP2

Linked Data

• dbSNP Id: rs121918355
• gnomAD v2: 14-75022332-G-T
• gnomAD v4: 14-74555629-G-T
• MyVariant Identifiers: chr14:g.75022332G>T (hg19) ; chr14:g.74555629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74555629G>T , CM000676.2:g.74555629G>T	GRCh38
NC_000014.8:g.75022332G>T , CM000676.1:g.75022332G>T	GRCh37
NC_000014.7:g.74092085G>T	NCBI36
NG_021486.1:g.61703C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.895C>A MANE Select	ENSP00000261978.4:p.Arg299=
ENST00000261978.8:c.895C>A	ENSP00000261978.4:p.Arg299=
ENST00000553939.5:c.895C>A	ENSP00000452110.1:p.Arg299=
ENST00000556690.5:c.895C>A	ENSP00000451477.1:p.Arg299=
ENST00000557425.1:n.124-4279C>A
NM_000428.2:c.895C>A	NP_000419.1:p.Arg299=
XM_011536765.1:c.895C>A	XP_011535067.1:p.Arg299=
XM_011536766.1:c.436C>A	XP_011535068.1:p.Arg146=
XM_011536767.1:c.412C>A	XP_011535069.1:p.Arg138=
XM_011536765.2:c.895C>A	XP_011535067.1:p.Arg299=
NM_000428.3:c.895C>A MANE Select	NP_000419.1:p.Arg299=