Canonical Allele Identifier: CA15197324
Gene: CAMKMT HGNC NCBI

Linked Data

dbSNP Id: rs2341459
gnomAD v2: 2-44768202-T-C
gnomAD v3: 2-44541063-T-C
gnomAD v4: 2-44541063-T-C
MyVariant Identifiers: chr2:g.44768202T>C (hg19) chr2:g.44541063T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44541063T>C , CM000664.2:g.44541063T>C GRCh38
NC_000002.11:g.44768202T>C , CM000664.1:g.44768202T>C GRCh37
NC_000002.10:g.44621706T>C NCBI36
NG_032944.1:g.184160T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378494.8:c.376+150758T>C MANE Select ENSP00000367755.3:n.376+150758T>C
ENST00000378494.7:c.376+150758T>C ENSP00000367755.3:n.376+150758T>C
ENST00000402247.5:c.377-8492T>C ENSP00000385587.1:n.377-8492T>C
ENST00000407131.5:c.377-90428T>C ENSP00000384039.1:n.377-90428T>C
ENST00000428993.1:c.207-8492T>C
NM_024766.4:c.376+150758T>C NP_079042.1:n.376+150758T>C
XM_011533111.1:c.376+150758T>C XP_011531413.1:n.376+150758T>C
XM_011533112.1:c.376+150758T>C XP_011531414.1:n.376+150758T>C
XR_939721.1:n.446+150758T>C
XR_939722.1:n.446+150758T>C
XR_939723.1:n.446+150758T>C
XM_011533111.2:c.376+150758T>C XP_011531413.1:n.376+150758T>C
XM_017004971.1:c.662-16825T>C XP_016860460.1:n.662-16825T>C
XM_017004982.2:c.4+35333T>C XP_016860471.1:n.4+35333T>C
XM_017004983.2:c.4+35333T>C XP_016860472.1:n.4+35333T>C
XR_001738949.2:n.446+150758T>C
XR_001738950.1:n.670+150758T>C
XR_939722.2:n.446+150758T>C
NM_024766.5:c.376+150758T>C MANE Select NP_079042.1:n.376+150758T>C
Search 100 bp 5'
Search 100 bp 3'