Canonical Allele Identifier: CA487267147
Gene: LTBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.74970028C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74503325C>A , CM000676.2:g.74503325C>A GRCh38
NC_000014.8:g.74970028C>A , CM000676.1:g.74970028C>A GRCh37
NC_000014.7:g.74039781C>A NCBI36
NG_021486.1:g.114007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.4782G>T MANE Select ENSP00000261978.4:p.Val1594=
ENST00000261978.8:c.4782G>T ENSP00000261978.4:p.Val1594=
ENST00000553939.5:c.4782G>T ENSP00000452110.1:p.Val1594=
ENST00000556690.5:c.4650G>T ENSP00000451477.1:p.Val1550=
NM_000428.2:c.4782G>T NP_000419.1:p.Val1594=
XM_011536765.1:c.4401G>T XP_011535067.1:p.Val1467=
XM_011536766.1:c.4323G>T XP_011535068.1:p.Val1441=
XM_011536767.1:c.4299G>T XP_011535069.1:p.Val1433=
XM_011536765.2:c.4401G>T XP_011535067.1:p.Val1467=
NM_000428.3:c.4782G>T MANE Select NP_000419.1:p.Val1594=