Canonical Allele Identifier: CA46948237

Gene: CAMKMT

Linked Data

• dbSNP Id: rs760069307
• gnomAD v2: 2-44662417-T-G
• gnomAD v3: 2-44435278-T-G
• gnomAD v4: 2-44435278-T-G
• MyVariant Identifiers: chr2:g.44662417T>G (hg19) ; chr2:g.44435278T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44435278T>G , CM000664.2:g.44435278T>G	GRCh38
NC_000002.11:g.44662417T>G , CM000664.1:g.44662417T>G	GRCh37
NC_000002.10:g.44515921T>G	NCBI36
NG_032944.1:g.78375T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378494.8:c.376+44973T>G MANE Select	ENSP00000367755.3:n.376+44973T>G
ENST00000378494.7:c.376+44973T>G	ENSP00000367755.3:n.376+44973T>G
ENST00000402247.5:c.376+44973T>G	ENSP00000385587.1:n.376+44973T>G
ENST00000403853.7:c.377-21290T>G	ENSP00000385124.3:n.377-21290T>G
ENST00000407131.5:c.376+44973T>G	ENSP00000384039.1:n.376+44973T>G
ENST00000428993.1:c.206+44973T>G
NM_024766.4:c.376+44973T>G	NP_079042.1:n.376+44973T>G
XM_011533111.1:c.376+44973T>G	XP_011531413.1:n.376+44973T>G
XM_011533112.1:c.376+44973T>G	XP_011531414.1:n.376+44973T>G
XR_939721.1:n.446+44973T>G
XR_939722.1:n.446+44973T>G
XR_939723.1:n.446+44973T>G
XM_011533111.2:c.376+44973T>G	XP_011531413.1:n.376+44973T>G
XM_017004971.1:c.661+44973T>G	XP_016860460.1:n.661+44973T>G
XM_017004975.1:c.662-6663T>G	XP_016860464.1:n.662-6663T>G
XM_017004976.1:c.661+44973T>G	XP_016860465.1:n.661+44973T>G
XM_017004977.1:c.662-21290T>G	XP_016860466.1:n.662-21290T>G
XM_017004978.1:c.662-21290T>G	XP_016860467.1:n.662-21290T>G
XM_017004980.1:c.662-40503T>G	XP_016860469.1:n.662-40503T>G
XM_017004981.1:c.662-8314T>G	XP_016860470.1:n.662-8314T>G
XR_001738949.2:n.446+44973T>G
XR_001738950.1:n.670+44973T>G
XR_001738953.1:n.671-6663T>G
XR_939722.2:n.446+44973T>G
NM_024766.5:c.376+44973T>G MANE Select	NP_079042.1:n.376+44973T>G