Canonical Allele Identifier: CA349954076

Gene: HECW2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.196240513T>C , CM000664.2:g.196240513T>C	GRCh38
NC_000002.11:g.197105237T>C , CM000664.1:g.197105237T>C	GRCh37
NC_000002.10:g.196813482T>C	NCBI36
NG_053156.1:g.358180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260983.8:c.3700A>G	ENSP00000260983.2:p.Met1234Val
ENST00000498146.2:n.793A>G
ENST00000644030.1:c.3721A>G	ENSP00000495504.1:p.Met1241Val
ENST00000644256.1:c.3700A>G	ENSP00000494649.1:p.Met1234Val
ENST00000644421.1:c.1424A>G
ENST00000644978.2:c.3700A>G MANE Select	ENSP00000495418.1:p.Met1234Val
ENST00000645468.1:n.457A>G
ENST00000647236.1:c.*2886A>G	ENSP00000494800.1:n.*2886A>G
ENST00000260983.7:c.3700A>G	ENSP00000260983.2:p.Met1234Val
ENST00000409111.2:c.2632A>G	ENSP00000386775.1:p.Met878Val
ENST00000498146.1:n.222A>G
NM_001304840.1:c.2632A>G	NP_001291769.1:p.Met878Val
NM_020760.2:c.3700A>G	NP_065811.1:p.Met1234Val
XM_006712646.2:c.3721A>G	XP_006712709.1:p.Met1241Val
XM_006712648.2:c.3328A>G	XP_006712711.1:p.Met1110Val
NM_001304840.2:c.2632A>G	NP_001291769.1:p.Met878Val
NM_001348768.1:c.3700A>G	NP_001335697.1:p.Met1234Val
NM_020760.3:c.3700A>G	NP_065811.1:p.Met1234Val
XM_006712646.3:c.3721A>G	XP_006712709.1:p.Met1241Val
XM_006712648.4:c.3328A>G	XP_006712711.1:p.Met1110Val
XM_024453020.1:c.3721A>G	XP_024308788.1:p.Met1241Val
XM_024453021.1:c.3721A>G	XP_024308789.1:p.Met1241Val
NM_001348768.2:c.3700A>G MANE Select	NP_001335697.1:p.Met1234Val
NM_001304840.3:c.2632A>G	NP_001291769.1:p.Met878Val
NM_020760.4:c.3700A>G	NP_065811.1:p.Met1234Val