Canonical Allele Identifier: CA449810078
Gene: EHMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31892560T>G , CM000668.2:g.31892560T>G GRCh38
NC_000006.11:g.31860337T>G , CM000668.1:g.31860337T>G GRCh37
NC_000006.10:g.31968316T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375537.9:c.711A>C MANE Select ENSP00000364687.4:p.Ser237=
ENST00000375528.8:c.882A>C ENSP00000364678.4:p.Ser294=
ENST00000375530.8:c.711A>C ENSP00000364680.4:p.Ser237=
ENST00000375537.8:c.711A>C ENSP00000364687.4:p.Ser237=
ENST00000395728.7:c.882A>C ENSP00000379078.3:p.Ser294=
ENST00000463484.1:n.405A>C
ENST00000480912.5:n.672A>C
NM_001289413.1:c.882A>C NP_001276342.1:p.Ser294=
NM_006709.4:c.711A>C NP_006700.3:p.Ser237=
NM_025256.6:c.711A>C NP_079532.5:p.Ser237=
XM_005248824.2:c.882A>C XP_005248881.1:p.Ser294=
XM_006714974.1:c.882A>C XP_006715037.1:p.Ser294=
XM_006714975.1:c.882A>C XP_006715038.1:p.Ser294=
XM_006714976.1:c.711A>C XP_006715039.1:p.Ser237=
NM_001318833.1:c.84A>C NP_001305762.1:p.Ser28=
NM_001363689.1:c.882A>C NP_001350618.1:p.Ser294=
XM_017010202.1:c.711A>C XP_016865691.1:p.Ser237=
NM_006709.5:c.711A>C MANE Select NP_006700.3:p.Ser237=
NM_025256.7:c.711A>C NP_079532.5:p.Ser237=
NM_001289413.2:c.882A>C NP_001276342.1:p.Ser294=
NM_001318833.2:c.84A>C NP_001305762.1:p.Ser28=
NM_001363689.2:c.882A>C NP_001350618.1:p.Ser294=
NM_001395160.1:c.711A>C NP_001382089.1:p.Ser237=
NM_001395161.1:c.711A>C NP_001382090.1:p.Ser237=
NM_001395162.1:c.711A>C NP_001382091.1:p.Ser237=
NM_001395163.1:c.711A>C NP_001382092.1:p.Ser237=
NM_001395164.1:c.711A>C NP_001382093.1:p.Ser237=
NM_001395165.1:c.708+134A>C NP_001382094.1:n.708+134A>C