Canonical Allele Identifier: CA7269521
Gene: LTBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 256097
ClinVar RCV Id: RCV000254357 RCV000293181 RCV000391683 RCV000837412 RCV001775709 RCV001775708
dbSNP Id: rs699374
ExAC: 14:74992800 A / G
gnomAD v2: 14-74992800-A-G
gnomAD v3: 14-74526097-A-G
gnomAD v4: 14-74526097-A-G
MyVariant Identifiers: chr14:g.74992800A>G (hg19) chr14:g.74526097A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74526097A>G , CM000676.2:g.74526097A>G GRCh38
NC_000014.8:g.74992800A>G , CM000676.1:g.74992800A>G GRCh37
NC_000014.7:g.74062553A>G NCBI36
NG_021486.1:g.91235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.2406T>C MANE Select ENSP00000261978.4:p.Thr802=
ENST00000261978.8:c.2406T>C ENSP00000261978.4:p.Thr802=
ENST00000553939.5:c.2406T>C ENSP00000452110.1:p.Thr802=
ENST00000556690.5:c.2406T>C ENSP00000451477.1:p.Thr802=
NM_000428.2:c.2406T>C NP_000419.1:p.Thr802=
XM_011536765.1:c.2025T>C XP_011535067.1:p.Thr675=
XM_011536766.1:c.1947T>C XP_011535068.1:p.Thr649=
XM_011536767.1:c.1923T>C XP_011535069.1:p.Thr641=
XM_011536765.2:c.2025T>C XP_011535067.1:p.Thr675=
NM_000428.3:c.2406T>C MANE Select NP_000419.1:p.Thr802=
Search 100 bp 5'
Search 100 bp 3'