Canonical Allele Identifier: CA487155761
Gene: LTBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.74967677G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500974G>A , CM000676.2:g.74500974G>A GRCh38
NC_000014.8:g.74967677G>A , CM000676.1:g.74967677G>A GRCh37
NC_000014.7:g.74037430G>A NCBI36
NG_021486.1:g.116358C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261978.9:c.5376C>T MANE Select ENSP00000261978.4:p.Tyr1792=
ENST00000261978.8:c.5376C>T ENSP00000261978.4:p.Tyr1792=
ENST00000553939.5:c.*155C>T ENSP00000452110.1:n.*155C>T
ENST00000554861.1:n.594C>T
ENST00000556690.5:c.5244C>T ENSP00000451477.1:p.Tyr1748=
NM_000428.2:c.5376C>T NP_000419.1:p.Tyr1792=
XM_011536765.1:c.4995C>T XP_011535067.1:p.Tyr1665=
XM_011536766.1:c.4917C>T XP_011535068.1:p.Tyr1639=
XM_011536767.1:c.4893C>T XP_011535069.1:p.Tyr1631=
XM_011536765.2:c.4995C>T XP_011535067.1:p.Tyr1665=
NM_000428.3:c.5376C>T MANE Select NP_000419.1:p.Tyr1792=