Canonical Allele Identifier: CA151335
Gene: LTBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74552291G>A
GRCh37 chr14:g.75018994G>A
Revel Score:
ENST00000261978 (MANE Select) 0.086
ENST00000556690 0.086
gnomAD v2:
14:75018994 G / A
gnomAD v3:
14:74552291 G / A
gnomAD v4:
chr14-74552291-G-A
Joint Max Group AF 0.00729914 (SAS)
Genomes Max Group AF 0.00662006 (SAS)
Exomes Max Group AF 0.00723531 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74552291G>A , CM000676.2:g.74552291G>A GRCh38
NC_000014.8:g.75018994G>A , CM000676.1:g.75018994G>A GRCh37
NC_000014.7:g.74088747G>A NCBI36
NG_021486.1:g.65041C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.1295C>T MANE Select ENSP00000261978.4:p.Pro432Leu
ENST00000261978.8:c.1295C>T ENSP00000261978.4:p.Pro432Leu
ENST00000553939.5:c.1295C>T ENSP00000452110.1:p.Pro432Leu
ENST00000556690.5:c.1295C>T ENSP00000451477.1:p.Pro432Leu
ENST00000557425.1:n.124-941C>T
NM_000428.2:c.1295C>T NP_000419.1:p.Pro432Leu
XM_011536765.1:c.1295C>T XP_011535067.1:p.Pro432Leu
XM_011536766.1:c.836C>T XP_011535068.1:p.Pro279Leu
XM_011536767.1:c.812C>T XP_011535069.1:p.Pro271Leu
XM_011536765.2:c.1295C>T XP_011535067.1:p.Pro432Leu
NM_000428.3:c.1295C>T MANE Select NP_000419.1:p.Pro432Leu
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