Canonical Allele Identifier: CA172459

Gene: L2HGDH

Linked Data

• ClinVar Variation Id: 158802
• ClinVar RCV Id: RCV000146253 ; RCV000676575 ; RCV001519703 ; RCV003927433
• dbSNP Id: rs72683923
• ExAC: 14:50735947 T / C
• gnomAD v2: 14-50735947-T-C
• gnomAD v3: 14-50269229-T-C
• gnomAD v4: 14-50269229-T-C
• MyVariant Identifiers: chr14:g.50735947T>C (hg19) ; chr14:g.50269229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50269229T>C , CM000676.2:g.50269229T>C	GRCh38
NC_000014.8:g.50735947T>C , CM000676.1:g.50735947T>C	GRCh37
NC_000014.7:g.49805697T>C	NCBI36
NG_008092.1:g.48001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267436.9:c.840A>G MANE Select	ENSP00000267436.4:p.Pro280=
ENST00000261699.8:c.840A>G	ENSP00000261699.4:p.Pro280=
ENST00000267436.8:c.840A>G	ENSP00000267436.4:p.Pro280=
ENST00000421284.7:c.840A>G	ENSP00000405559.3:p.Pro280=
NM_024884.2:c.840A>G	NP_079160.1:p.Pro280=
XM_005268075.3:c.840A>G	XP_005268132.1:p.Pro280=
XM_011537166.1:c.729A>G	XP_011535468.1:p.Pro243=
XM_011537167.1:c.705A>G	XP_011535469.1:p.Pro235=
XM_011537168.1:c.294A>G	XP_011535470.1:p.Pro98=
XM_011537169.1:c.294A>G	XP_011535471.1:p.Pro98=
XM_005268075.5:c.840A>G	XP_005268132.1:p.Pro280=
XM_011537166.3:c.729A>G	XP_011535468.1:p.Pro243=
XM_011537167.3:c.705A>G	XP_011535469.1:p.Pro235=
XM_011537168.3:c.294A>G	XP_011535470.1:p.Pro98=
XM_017021655.2:c.729A>G	XP_016877144.1:p.Pro243=
XM_017021656.2:c.294A>G	XP_016877145.1:p.Pro98=
XM_017021657.2:c.294A>G	XP_016877146.1:p.Pro98=
NM_024884.3:c.840A>G MANE Select	NP_079160.1:p.Pro280=