Canonical Allele Identifier: CA7268657

Gene: LTBP2

Linked Data

• dbSNP Id: rs767306132
• ExAC: 14:74970120 C / T
• gnomAD v2: 14-74970120-C-T
• gnomAD v3: 14-74503417-C-T
• gnomAD v4: 14-74503417-C-T
• MyVariant Identifiers: chr14:g.74970120C>T (hg19) ; chr14:g.74503417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503417C>T , CM000676.2:g.74503417C>T	GRCh38
NC_000014.8:g.74970120C>T , CM000676.1:g.74970120C>T	GRCh37
NC_000014.7:g.74039873C>T	NCBI36
NG_021486.1:g.113915G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.4721-31G>A MANE Select	ENSP00000261978.4:n.4721-31G>A
ENST00000261978.8:c.4721-31G>A	ENSP00000261978.4:n.4721-31G>A
ENST00000553939.5:c.4721-31G>A	ENSP00000452110.1:n.4721-31G>A
ENST00000556690.5:c.4589-31G>A	ENSP00000451477.1:n.4589-31G>A
NM_000428.2:c.4721-31G>A	NP_000419.1:n.4721-31G>A
XM_011536765.1:c.4340-31G>A	XP_011535067.1:n.4340-31G>A
XM_011536766.1:c.4262-31G>A	XP_011535068.1:n.4262-31G>A
XM_011536767.1:c.4238-31G>A	XP_011535069.1:n.4238-31G>A
XM_011536765.2:c.4340-31G>A	XP_011535067.1:n.4340-31G>A
NM_000428.3:c.4721-31G>A MANE Select	NP_000419.1:n.4721-31G>A