Canonical Allele Identifier: CA390384980
Gene: LTBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74503477C>G , CM000676.2:g.74503477C>G GRCh38
NC_000014.8:g.74970180C>G , CM000676.1:g.74970180C>G GRCh37
NC_000014.7:g.74039933C>G NCBI36
NG_021486.1:g.113855G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.4712G>C MANE Select ENSP00000261978.4:p.Ser1571Thr
ENST00000261978.8:c.4712G>C ENSP00000261978.4:p.Ser1571Thr
ENST00000553939.5:c.4712G>C ENSP00000452110.1:p.Ser1571Thr
ENST00000556690.5:c.4580G>C ENSP00000451477.1:p.Ser1527Thr
NM_000428.2:c.4712G>C NP_000419.1:p.Ser1571Thr
XM_011536765.1:c.4331G>C XP_011535067.1:p.Ser1444Thr
XM_011536766.1:c.4253G>C XP_011535068.1:p.Ser1418Thr
XM_011536767.1:c.4229G>C XP_011535069.1:p.Ser1410Thr
XM_011536765.2:c.4331G>C XP_011535067.1:p.Ser1444Thr
NM_000428.3:c.4712G>C MANE Select NP_000419.1:p.Ser1571Thr