Canonical Allele Identifier: CA346719304

Gene: CALM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47161858C>A , CM000664.2:g.47161858C>A	GRCh38
NC_000002.11:g.47388997C>A , CM000664.1:g.47388997C>A	GRCh37
NC_000002.10:g.47242501C>A	NCBI36
NG_042065.1:g.20079G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001743.6:c.286G>T MANE Select	NP_001734.1:p.Asp96Tyr
ENST00000272298.12:c.286G>T MANE Select	ENSP00000272298.7:p.Asp96Tyr
NM_001305624.1:c.430G>T	NP_001292553.1:p.Asp144Tyr
NM_001305625.1:c.178G>T	NP_001292554.1:p.Asp60Tyr
NM_001305625.2:c.178G>T	NP_001292554.1:p.Asp60Tyr
NM_001305626.1:c.178G>T	NP_001292555.1:p.Asp60Tyr
NM_001743.4:c.286G>T	NP_001734.1:p.Asp96Tyr
NM_001743.5:c.286G>T	NP_001734.1:p.Asp96Tyr
ENST00000272298.11:c.286G>T	ENSP00000272298.7:p.Asp96Tyr
ENST00000409563.5:c.427G>T	ENSP00000387065.1:p.Asp143Tyr
ENST00000422269.1:c.103-8842G>T
ENST00000432899.5:c.179G>T	ENSP00000406112.1:p.Gly60Val
ENST00000456319.5:c.400G>T	ENSP00000411440.1:p.Asp134Tyr
ENST00000456319.6:c.178G>T	ENSP00000411440.2:p.Asp60Tyr
ENST00000460218.5:n.3726G>T
ENST00000482532.5:n.1553G>T
ENST00000484408.5:n.547G>T
ENST00000628793.2:c.166-78G>T	ENSP00000486952.1:n.166-78G>T
ENST00000652974.1:c.*270G>T	ENSP00000499369.1:n.*270G>T
ENST00000655450.1:c.178G>T	ENSP00000499266.1:p.Asp60Tyr
ENST00000655728.1:c.178G>T	ENSP00000499656.1:p.Asp60Tyr
ENST00000656538.1:c.178G>T	ENSP00000499357.1:p.Asp60Tyr
ENST00000668667.1:c.178G>T	ENSP00000499706.1:p.Asp60Tyr
ENST00000670593.1:n.1191G>T