Canonical Allele Identifier: CA390381957

Gene: LTBP2

Linked Data

• dbSNP Id: rs1225727074
• gnomAD v2: 14-74967657-G-A
• MyVariant Identifiers: chr14:g.74967657G>A (hg19) ; chr14:g.74500954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500954G>A , CM000676.2:g.74500954G>A	GRCh38
NC_000014.8:g.74967657G>A , CM000676.1:g.74967657G>A	GRCh37
NC_000014.7:g.74037410G>A	NCBI36
NG_021486.1:g.116378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5396C>T MANE Select	ENSP00000261978.4:p.Ser1799Phe
ENST00000261978.8:c.5396C>T	ENSP00000261978.4:p.Ser1799Phe
ENST00000553939.5:c.*175C>T	ENSP00000452110.1:n.*175C>T
ENST00000554861.1:n.614C>T
ENST00000556690.5:c.5264C>T	ENSP00000451477.1:p.Ser1755Phe
NM_000428.2:c.5396C>T	NP_000419.1:p.Ser1799Phe
XM_011536765.1:c.5015C>T	XP_011535067.1:p.Ser1672Phe
XM_011536766.1:c.4937C>T	XP_011535068.1:p.Ser1646Phe
XM_011536767.1:c.4913C>T	XP_011535069.1:p.Ser1638Phe
XM_011536765.2:c.5015C>T	XP_011535067.1:p.Ser1672Phe
NM_000428.3:c.5396C>T MANE Select	NP_000419.1:p.Ser1799Phe