Canonical Allele Identifier: CA390400308

Gene: LTBP2

Linked Data

• dbSNP Id: rs137854861
• gnomAD v2: 14-75018994-G-C
• gnomAD v3: 14-74552291-G-C
• gnomAD v4: 14-74552291-G-C
• MyVariant Identifiers: chr14:g.75018994G>C (hg19) ; chr14:g.74552291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74552291G>C , CM000676.2:g.74552291G>C	GRCh38
NC_000014.8:g.75018994G>C , CM000676.1:g.75018994G>C	GRCh37
NC_000014.7:g.74088747G>C	NCBI36
NG_021486.1:g.65041C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.1295C>G MANE Select	ENSP00000261978.4:p.Pro432Arg
ENST00000261978.8:c.1295C>G	ENSP00000261978.4:p.Pro432Arg
ENST00000553939.5:c.1295C>G	ENSP00000452110.1:p.Pro432Arg
ENST00000556690.5:c.1295C>G	ENSP00000451477.1:p.Pro432Arg
ENST00000557425.1:n.124-941C>G
NM_000428.2:c.1295C>G	NP_000419.1:p.Pro432Arg
XM_011536765.1:c.1295C>G	XP_011535067.1:p.Pro432Arg
XM_011536766.1:c.836C>G	XP_011535068.1:p.Pro279Arg
XM_011536767.1:c.812C>G	XP_011535069.1:p.Pro271Arg
XM_011536765.2:c.1295C>G	XP_011535067.1:p.Pro432Arg
NM_000428.3:c.1295C>G MANE Select	NP_000419.1:p.Pro432Arg