Canonical Allele Identifier: CA263263
Gene: SLC26A2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.149978055C>A
GRCh37 chr5:g.149357618C>A
Revel Score:
ENST00000286298 (MANE Select) 0.818
ENST00000503336 0.818
gnomAD v2:
5:149357618 C / A
gnomAD v3:
5:149978055 C / A
gnomAD v4:
chr5-149978055-C-A
Joint Max Group AF 2.8e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978055C>A , CM000667.2:g.149978055C>A GRCh38
NC_000005.9:g.149357618C>A , CM000667.1:g.149357618C>A GRCh37
NC_000005.8:g.149337811C>A NCBI36
NG_007147.2:g.19173C>A , LRG_684:g.19173C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.635C>A
ENST00000286298.5:c.403C>A MANE Select ENSP00000286298.4:p.Gln135Lys
ENST00000286298.4:c.403C>A ENSP00000286298.4:p.Gln135Lys
ENST00000503336.1:c.76C>A ENSP00000426053.1:p.Gln26Lys
NM_000112.3:c.403C>A , LRG_684t1:c.403C>A NP_000103.2:p.Gln135Lys
XM_017009191.2:c.403C>A XP_016864680.1:p.Gln135Lys
NM_000112.4:c.403C>A MANE Select NP_000103.2:p.Gln135Lys
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