Canonical Allele Identifier: CA263579023

Gene: LTBP2

Linked Data

• dbSNP Id: rs746092486
• gnomAD v2: 14-74970168-T-C
• gnomAD v4: 14-74503465-T-C
• MyVariant Identifiers: chr14:g.74970168T>C (hg19) ; chr14:g.74503465T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503465T>C , CM000676.2:g.74503465T>C	GRCh38
NC_000014.8:g.74970168T>C , CM000676.1:g.74970168T>C	GRCh37
NC_000014.7:g.74039921T>C	NCBI36
NG_021486.1:g.113867A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4720+4A>G MANE Select	ENSP00000261978.4:n.4720+4A>G
ENST00000261978.8:c.4720+4A>G	ENSP00000261978.4:n.4720+4A>G
ENST00000553939.5:c.4720+4A>G	ENSP00000452110.1:n.4720+4A>G
ENST00000556690.5:c.4588+4A>G	ENSP00000451477.1:n.4588+4A>G
NM_000428.2:c.4720+4A>G	NP_000419.1:n.4720+4A>G
XM_011536765.1:c.4339+4A>G	XP_011535067.1:n.4339+4A>G
XM_011536766.1:c.4261+4A>G	XP_011535068.1:n.4261+4A>G
XM_011536767.1:c.4237+4A>G	XP_011535069.1:n.4237+4A>G
XM_011536765.2:c.4339+4A>G	XP_011535067.1:n.4339+4A>G
NM_000428.3:c.4720+4A>G MANE Select	NP_000419.1:n.4720+4A>G