Canonical Allele Identifier: CA10623612
Community Standard Title: NM_000112.4(SLC26A2):c.*205G>A
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149982018G>A , CM000667.2:g.149982018G>A GRCh38
NC_000005.9:g.149361581G>A , CM000667.1:g.149361581G>A GRCh37
NC_000005.8:g.149341774G>A NCBI36
NG_007147.2:g.23136G>A , LRG_684:g.23136G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000112.4:c.*205G>A MANE Select NP_000103.2:n.*205G>A
ENST00000286298.5:c.*205G>A MANE Select ENSP00000286298.4:n.*205G>A
NM_000112.3:c.*205G>A , LRG_684t1:c.*205G>A NP_000103.2:n.*205G>A
ENST00000286298.4:c.*205G>A ENSP00000286298.4:n.*205G>A
ENST00000503336.1:c.372+3667G>A ENSP00000426053.1:n.372+3667G>A
XM_017009191.2:c.*102G>A XP_016864680.1:n.*102G>A
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