Canonical Allele Identifier: CA350320193

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568858A>G (hg19) ; chr2:g.201704135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704135A>G , CM000664.2:g.201704135A>G	GRCh38
NC_000002.11:g.202568858A>G , CM000664.1:g.202568858A>G	GRCh37
NC_000002.10:g.202277103A>G	NCBI36
NG_008775.1:g.82038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4922T>C MANE Select	ENSP00000264276.6:p.Phe1641Ser
ENST00000439495.6:c.*1102T>C	ENSP00000403832.2:n.*1102T>C
ENST00000679409.1:c.*1627T>C	ENSP00000506531.1:n.*1627T>C
ENST00000679416.1:n.6426T>C
ENST00000679427.1:n.2593T>C
ENST00000679435.1:c.4922T>C	ENSP00000505218.1:p.Phe1641Ser
ENST00000679516.1:c.4922T>C	ENSP00000505187.1:p.Phe1641Ser
ENST00000679618.1:c.*2010T>C	ENSP00000506274.1:n.*2010T>C
ENST00000679630.1:n.6771T>C
ENST00000679635.1:n.3184T>C
ENST00000679686.1:n.5036T>C
ENST00000679701.1:n.7914T>C
ENST00000679916.1:c.*1270T>C	ENSP00000506172.1:n.*1270T>C
ENST00000680000.1:c.4922T>C	ENSP00000506173.1:p.Phe1641Ser
ENST00000680135.1:c.*2883T>C	ENSP00000506211.1:n.*2883T>C
ENST00000680149.1:c.*204T>C	ENSP00000506497.1:n.*204T>C
ENST00000680163.1:c.4922T>C	ENSP00000505092.1:p.Phe1641Ser
ENST00000680174.1:n.5613T>C
ENST00000680236.1:c.*1983T>C	ENSP00000506212.1:n.*1983T>C
ENST00000680404.1:n.437T>C
ENST00000680441.1:n.3480T>C
ENST00000680497.1:c.5024T>C	ENSP00000505954.1:p.Phe1675Ser
ENST00000680508.1:c.*78T>C	ENSP00000505749.1:n.*78T>C
ENST00000680569.1:c.*2865T>C	ENSP00000505522.1:n.*2865T>C
ENST00000680634.1:n.1430T>C
ENST00000680722.1:n.2722T>C
ENST00000680726.1:c.*204T>C	ENSP00000505505.1:n.*204T>C
ENST00000680759.1:c.4754T>C	ENSP00000505848.1:p.Phe1585Ser
ENST00000680814.1:c.4838+319T>C	ENSP00000505710.1:n.4838+319T>C
ENST00000680828.1:c.*2616T>C	ENSP00000505249.1:n.*2616T>C
ENST00000680861.1:c.4922T>C	ENSP00000505043.1:p.Phe1641Ser
ENST00000680927.1:c.*1102T>C	ENSP00000505473.1:n.*1102T>C
ENST00000680939.1:n.6863T>C
ENST00000681250.1:c.*1639T>C	ENSP00000505684.1:n.*1639T>C
ENST00000681256.1:c.*2937T>C	ENSP00000505446.1:n.*2937T>C
ENST00000681279.1:n.5788T>C
ENST00000681307.1:n.6035T>C
ENST00000681461.1:n.5690T>C
ENST00000681495.1:c.2459T>C	ENSP00000506085.1:p.Phe820Ser
ENST00000681558.1:c.2600T>C	ENSP00000505568.1:p.Phe867Ser
ENST00000681619.1:c.4919T>C	ENSP00000505071.1:p.Phe1640Ser
ENST00000681663.1:n.1828T>C
ENST00000681692.1:n.2882T>C
ENST00000681716.1:c.*2776T>C	ENSP00000505078.1:n.*2776T>C
ENST00000681768.1:c.*2586T>C	ENSP00000506311.1:n.*2586T>C
ENST00000681808.1:c.4745T>C	ENSP00000505219.1:p.Phe1582Ser
ENST00000264276.10:c.4922T>C	ENSP00000264276.6:p.Phe1641Ser
ENST00000439495.5:c.3026T>C
NM_020919.3:c.4922T>C	NP_065970.2:p.Phe1641Ser
XM_005246709.2:c.4919T>C	XP_005246766.1:p.Phe1640Ser
XM_006712654.1:c.4922T>C	XP_006712717.1:p.Phe1641Ser
XM_006712655.2:c.2858T>C	XP_006712718.1:p.Phe953Ser
XM_011511530.1:c.4583T>C	XP_011509832.1:p.Phe1528Ser
XR_922974.1:n.5200T>C
XM_006712654.3:c.4922T>C	XP_006712717.1:p.Phe1641Ser
XM_006712655.3:c.2858T>C	XP_006712718.1:p.Phe953Ser
XM_017004569.2:c.4919T>C	XP_016860058.1:p.Phe1640Ser
XM_017004572.2:c.2540T>C	XP_016860061.1:p.Phe847Ser
XM_024453024.1:c.4583T>C	XP_024308792.1:p.Phe1528Ser
XM_024453025.1:c.2855T>C	XP_024308793.1:p.Phe952Ser
XR_001738864.2:n.5037T>C
XR_001738865.2:n.5034T>C
XR_001738866.2:n.5200T>C
XR_001738867.2:n.5197T>C
XR_002959320.1:n.4093T>C
NM_020919.4:c.4922T>C MANE Select	NP_065970.2:p.Phe1641Ser