Canonical Allele Identifier: CA350442240

Gene: ERBB4

Linked Data

• MyVariant Identifiers: chr2:g.212566728T>G (hg19) ; chr2:g.211702003T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211702003T>G , CM000664.2:g.211702003T>G	GRCh38
NC_000002.11:g.212566728T>G , CM000664.1:g.212566728T>G	GRCh37
NC_000002.10:g.212274973T>G	NCBI36
NG_011805.1:g.841625A>C
NG_011805.2:g.841626A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260943.11:c.1453A>C	ENSP00000260943.7:p.Ile485Leu
ENST00000342788.9:c.1453A>C MANE Select	ENSP00000342235.4:p.Ile485Leu
ENST00000402597.6:c.1375A>C	ENSP00000385565.3:p.Ile459Leu
ENST00000260943.10:c.1452A>C
ENST00000342788.8:c.1453A>C	ENSP00000342235.4:p.Ile485Leu
ENST00000402597.5:c.1276A>C	ENSP00000385565.2:p.Ile426Leu
ENST00000436443.5:c.1453A>C	ENSP00000403204.1:p.Ile485Leu
ENST00000484594.5:n.1505A>C
NM_001042599.1:c.1453A>C	NP_001036064.1:p.Ile485Leu
NM_005235.2:c.1453A>C	NP_005226.1:p.Ile485Leu
XM_005246375.1:c.1453A>C	XP_005246432.1:p.Ile485Leu
XM_005246376.1:c.1453A>C	XP_005246433.1:p.Ile485Leu
XM_005246377.1:c.1453A>C	XP_005246434.1:p.Ile485Leu
XM_006712364.1:c.1453A>C	XP_006712427.1:p.Ile485Leu
XM_005246376.3:c.1453A>C	XP_005246433.1:p.Ile485Leu
XM_005246377.3:c.1453A>C	XP_005246434.1:p.Ile485Leu
XM_006712364.3:c.1453A>C	XP_006712427.1:p.Ile485Leu
XM_017003577.2:c.1531A>C	XP_016859066.1:p.Ile511Leu
XM_017003578.2:c.1531A>C	XP_016859067.1:p.Ile511Leu
XM_017003579.2:c.1531A>C	XP_016859068.1:p.Ile511Leu
XM_017003580.2:c.1531A>C	XP_016859069.1:p.Ile511Leu
XM_017003581.2:c.1531A>C	XP_016859070.1:p.Ile511Leu
XM_017003582.1:c.832A>C	XP_016859071.1:p.Ile278Leu
NM_005235.3:c.1453A>C MANE Select	NP_005226.1:p.Ile485Leu