Canonical Allele Identifier: CA64751937

Gene: ERBB4

Linked Data

• dbSNP Id: rs949099086
• gnomAD v4: 2-211702080-T-C
• MyVariant Identifiers: chr2:g.212566805T>C (hg19) ; chr2:g.211702080T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211702080T>C , CM000664.2:g.211702080T>C	GRCh38
NC_000002.11:g.212566805T>C , CM000664.1:g.212566805T>C	GRCh37
NC_000002.10:g.212275050T>C	NCBI36
NG_011805.1:g.841548A>G
NG_011805.2:g.841549A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260943.11:c.1376A>G	ENSP00000260943.7:p.Tyr459Cys
ENST00000342788.9:c.1376A>G MANE Select	ENSP00000342235.4:p.Tyr459Cys
ENST00000402597.6:c.1298A>G	ENSP00000385565.3:p.Tyr433Cys
ENST00000260943.10:c.1375A>G
ENST00000342788.8:c.1376A>G	ENSP00000342235.4:p.Tyr459Cys
ENST00000402597.5:c.1199A>G	ENSP00000385565.2:p.Tyr400Cys
ENST00000436443.5:c.1376A>G	ENSP00000403204.1:p.Tyr459Cys
ENST00000484594.5:n.1428A>G
NM_001042599.1:c.1376A>G	NP_001036064.1:p.Tyr459Cys
NM_005235.2:c.1376A>G	NP_005226.1:p.Tyr459Cys
XM_005246375.1:c.1376A>G	XP_005246432.1:p.Tyr459Cys
XM_005246376.1:c.1376A>G	XP_005246433.1:p.Tyr459Cys
XM_005246377.1:c.1376A>G	XP_005246434.1:p.Tyr459Cys
XM_006712364.1:c.1376A>G	XP_006712427.1:p.Tyr459Cys
XM_005246376.3:c.1376A>G	XP_005246433.1:p.Tyr459Cys
XM_005246377.3:c.1376A>G	XP_005246434.1:p.Tyr459Cys
XM_006712364.3:c.1376A>G	XP_006712427.1:p.Tyr459Cys
XM_017003577.2:c.1454A>G	XP_016859066.1:p.Tyr485Cys
XM_017003578.2:c.1454A>G	XP_016859067.1:p.Tyr485Cys
XM_017003579.2:c.1454A>G	XP_016859068.1:p.Tyr485Cys
XM_017003580.2:c.1454A>G	XP_016859069.1:p.Tyr485Cys
XM_017003581.2:c.1454A>G	XP_016859070.1:p.Tyr485Cys
XM_017003582.1:c.755A>G	XP_016859071.1:p.Tyr252Cys
NM_005235.3:c.1376A>G MANE Select	NP_005226.1:p.Tyr459Cys