Canonical Allele Identifier: CA487267179
Gene: LTBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.74970173C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74503470C>G , CM000676.2:g.74503470C>G GRCh38
NC_000014.8:g.74970173C>G , CM000676.1:g.74970173C>G GRCh37
NC_000014.7:g.74039926C>G NCBI36
NG_021486.1:g.113862G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.4719G>C MANE Select ENSP00000261978.4:p.Thr1573=
ENST00000261978.8:c.4719G>C ENSP00000261978.4:p.Thr1573=
ENST00000553939.5:c.4719G>C ENSP00000452110.1:p.Thr1573=
ENST00000556690.5:c.4587G>C ENSP00000451477.1:p.Thr1529=
NM_000428.2:c.4719G>C NP_000419.1:p.Thr1573=
XM_011536765.1:c.4338G>C XP_011535067.1:p.Thr1446=
XM_011536766.1:c.4260G>C XP_011535068.1:p.Thr1420=
XM_011536767.1:c.4236G>C XP_011535069.1:p.Thr1412=
XM_011536765.2:c.4338G>C XP_011535067.1:p.Thr1446=
NM_000428.3:c.4719G>C MANE Select NP_000419.1:p.Thr1573=