Canonical Allele Identifier: CA2088150

Gene: ERBB4

Linked Data

• dbSNP Id: rs767472865
• ExAC: 2:212566848 G / A
• gnomAD v2: 2-212566848-G-A
• gnomAD v3: 2-211702123-G-A
• gnomAD v4: 2-211702123-G-A
• COSMIC: COSM719374 ; COSM1647283
• MyVariant Identifiers: chr2:g.212566848G>A (hg19) ; chr2:g.211702123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211702123G>A , CM000664.2:g.211702123G>A	GRCh38
NC_000002.11:g.212566848G>A , CM000664.1:g.212566848G>A	GRCh37
NC_000002.10:g.212275093G>A	NCBI36
NG_011805.1:g.841505C>T
NG_011805.2:g.841506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260943.11:c.1333C>T	ENSP00000260943.7:p.Leu445=
ENST00000342788.9:c.1333C>T MANE Select	ENSP00000342235.4:p.Leu445=
ENST00000402597.6:c.1255C>T	ENSP00000385565.3:p.Leu419=
ENST00000260943.10:c.1332C>T
ENST00000342788.8:c.1333C>T	ENSP00000342235.4:p.Leu445=
ENST00000402597.5:c.1156C>T	ENSP00000385565.2:p.Leu386=
ENST00000436443.5:c.1333C>T	ENSP00000403204.1:p.Leu445=
ENST00000484594.5:n.1385C>T
NM_001042599.1:c.1333C>T	NP_001036064.1:p.Leu445=
NM_005235.2:c.1333C>T	NP_005226.1:p.Leu445=
XM_005246375.1:c.1333C>T	XP_005246432.1:p.Leu445=
XM_005246376.1:c.1333C>T	XP_005246433.1:p.Leu445=
XM_005246377.1:c.1333C>T	XP_005246434.1:p.Leu445=
XM_006712364.1:c.1333C>T	XP_006712427.1:p.Leu445=
XM_005246376.3:c.1333C>T	XP_005246433.1:p.Leu445=
XM_005246377.3:c.1333C>T	XP_005246434.1:p.Leu445=
XM_006712364.3:c.1333C>T	XP_006712427.1:p.Leu445=
XM_017003577.2:c.1411C>T	XP_016859066.1:p.Leu471=
XM_017003578.2:c.1411C>T	XP_016859067.1:p.Leu471=
XM_017003579.2:c.1411C>T	XP_016859068.1:p.Leu471=
XM_017003580.2:c.1411C>T	XP_016859069.1:p.Leu471=
XM_017003581.2:c.1411C>T	XP_016859070.1:p.Leu471=
XM_017003582.1:c.712C>T	XP_016859071.1:p.Leu238=
NM_005235.3:c.1333C>T MANE Select	NP_005226.1:p.Leu445=