Canonical Allele Identifier: CA346718873
Community Standard Title: NM_001743.6(CALM2):c.434T>G (p.Met145Arg)
Gene: CALM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47160792A>C , CM000664.2:g.47160792A>C GRCh38
NC_000002.11:g.47387931A>C , CM000664.1:g.47387931A>C GRCh37
NC_000002.10:g.47241435A>C NCBI36
NG_042065.1:g.21145T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001743.6:c.434T>G MANE Select NP_001734.1:p.Met145Arg
ENST00000272298.12:c.434T>G MANE Select ENSP00000272298.7:p.Met145Arg
NM_001305624.1:c.578T>G NP_001292553.1:p.Met193Arg
NM_001305625.1:c.326T>G NP_001292554.1:p.Met109Arg
NM_001305625.2:c.326T>G NP_001292554.1:p.Met109Arg
NM_001305626.1:c.326T>G NP_001292555.1:p.Met109Arg
NM_001743.4:c.434T>G NP_001734.1:p.Met145Arg
NM_001743.5:c.434T>G NP_001734.1:p.Met145Arg
ENST00000272298.11:c.434T>G ENSP00000272298.7:p.Met145Arg
ENST00000409563.5:c.575T>G ENSP00000387065.1:p.Met192Arg
ENST00000422269.1:c.103-7776T>G
ENST00000432899.5:c.*129T>G ENSP00000406112.1:n.*129T>G
ENST00000456319.5:c.548T>G ENSP00000411440.1:p.Met183Arg
ENST00000456319.6:c.326T>G ENSP00000411440.2:p.Met109Arg
ENST00000460218.5:n.3874T>G
ENST00000482532.5:n.1701T>G
ENST00000628793.2:c.236T>G ENSP00000486952.1:p.Met79Arg
ENST00000652974.1:c.*418T>G ENSP00000499369.1:n.*418T>G
ENST00000655450.1:c.326T>G ENSP00000499266.1:p.Met109Arg
ENST00000655728.1:c.326T>G ENSP00000499656.1:p.Met109Arg
ENST00000656538.1:c.326T>G ENSP00000499357.1:p.Met109Arg
ENST00000668667.1:c.326T>G ENSP00000499706.1:p.Met109Arg
ENST00000670593.1:n.1339T>G