Canonical Allele Identifier: CA346719051

Gene: CALM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161750C>A , CM000664.2:g.47161750C>A	GRCh38
NC_000002.11:g.47388889C>A , CM000664.1:g.47388889C>A	GRCh37
NC_000002.10:g.47242393C>A	NCBI36
NG_042065.1:g.20187G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001743.6:c.394G>T MANE Select	NP_001734.1:p.Asp132Tyr
ENST00000272298.12:c.394G>T MANE Select	ENSP00000272298.7:p.Asp132Tyr
NM_001305624.1:c.538G>T	NP_001292553.1:p.Asp180Tyr
NM_001305625.1:c.286G>T	NP_001292554.1:p.Asp96Tyr
NM_001305625.2:c.286G>T	NP_001292554.1:p.Asp96Tyr
NM_001305626.1:c.286G>T	NP_001292555.1:p.Asp96Tyr
NM_001743.4:c.394G>T	NP_001734.1:p.Asp132Tyr
NM_001743.5:c.394G>T	NP_001734.1:p.Asp132Tyr
ENST00000272298.11:c.394G>T	ENSP00000272298.7:p.Asp132Tyr
ENST00000409563.5:c.535G>T	ENSP00000387065.1:p.Asp179Tyr
ENST00000422269.1:c.103-8734G>T
ENST00000432899.5:c.*89G>T	ENSP00000406112.1:n.*89G>T
ENST00000456319.5:c.508G>T	ENSP00000411440.1:p.Asp170Tyr
ENST00000456319.6:c.286G>T	ENSP00000411440.2:p.Asp96Tyr
ENST00000460218.5:n.3834G>T
ENST00000482532.5:n.1661G>T
ENST00000484408.5:n.655G>T
ENST00000628793.2:c.196G>T	ENSP00000486952.1:p.Asp66Tyr
ENST00000652974.1:c.*378G>T	ENSP00000499369.1:n.*378G>T
ENST00000655450.1:c.286G>T	ENSP00000499266.1:p.Asp96Tyr
ENST00000655728.1:c.286G>T	ENSP00000499656.1:p.Asp96Tyr
ENST00000656538.1:c.286G>T	ENSP00000499357.1:p.Asp96Tyr
ENST00000668667.1:c.286G>T	ENSP00000499706.1:p.Asp96Tyr
ENST00000670593.1:n.1299G>T