Canonical Allele Identifier: CA390381837

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74500910-G-C
• MyVariant Identifiers: chr14:g.74967613G>C (hg19) ; chr14:g.74500910G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500910G>C , CM000676.2:g.74500910G>C	GRCh38
NC_000014.8:g.74967613G>C , CM000676.1:g.74967613G>C	GRCh37
NC_000014.7:g.74037366G>C	NCBI36
NG_021486.1:g.116422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5440C>G MANE Select	ENSP00000261978.4:p.Pro1814Ala
ENST00000261978.8:c.5440C>G	ENSP00000261978.4:p.Pro1814Ala
ENST00000553939.5:c.*219C>G	ENSP00000452110.1:n.*219C>G
ENST00000554861.1:n.658C>G
ENST00000556690.5:c.5308C>G	ENSP00000451477.1:p.Pro1770Ala
NM_000428.2:c.5440C>G	NP_000419.1:p.Pro1814Ala
XM_011536765.1:c.5059C>G	XP_011535067.1:p.Pro1687Ala
XM_011536766.1:c.4981C>G	XP_011535068.1:p.Pro1661Ala
XM_011536767.1:c.4957C>G	XP_011535069.1:p.Pro1653Ala
XM_011536765.2:c.5059C>G	XP_011535067.1:p.Pro1687Ala
NM_000428.3:c.5440C>G MANE Select	NP_000419.1:p.Pro1814Ala