Canonical Allele Identifier: CA390381848

Gene: LTBP2

Linked Data

• dbSNP Id: rs2086901136
• gnomAD v3: 14-74500916-C-T
• gnomAD v4: 14-74500916-C-T
• MyVariant Identifiers: chr14:g.74967619C>T (hg19) ; chr14:g.74500916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500916C>T , CM000676.2:g.74500916C>T	GRCh38
NC_000014.8:g.74967619C>T , CM000676.1:g.74967619C>T	GRCh37
NC_000014.7:g.74037372C>T	NCBI36
NG_021486.1:g.116416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5434G>A MANE Select	ENSP00000261978.4:p.Ala1812Thr
ENST00000261978.8:c.5434G>A	ENSP00000261978.4:p.Ala1812Thr
ENST00000553939.5:c.*213G>A	ENSP00000452110.1:n.*213G>A
ENST00000554861.1:n.652G>A
ENST00000556690.5:c.5302G>A	ENSP00000451477.1:p.Ala1768Thr
NM_000428.2:c.5434G>A	NP_000419.1:p.Ala1812Thr
XM_011536765.1:c.5053G>A	XP_011535067.1:p.Ala1685Thr
XM_011536766.1:c.4975G>A	XP_011535068.1:p.Ala1659Thr
XM_011536767.1:c.4951G>A	XP_011535069.1:p.Ala1651Thr
XM_011536765.2:c.5053G>A	XP_011535067.1:p.Ala1685Thr
NM_000428.3:c.5434G>A MANE Select	NP_000419.1:p.Ala1812Thr