Canonical Allele Identifier: CA2184014

Gene: SH3BP4

Linked Data

• dbSNP Id: rs770337282
• ExAC: 2:235961209 C / T
• gnomAD v2: 2-235961209-C-T
• gnomAD v3: 2-235052565-C-T
• gnomAD v4: 2-235052565-C-T
• MyVariant Identifiers: chr2:g.235961209C>T (hg19) ; chr2:g.235052565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.235052565C>T , CM000664.2:g.235052565C>T	GRCh38
NC_000002.11:g.235961209C>T , CM000664.1:g.235961209C>T	GRCh37
NC_000002.10:g.235625948C>T	NCBI36
NG_033930.1:g.105582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392011.7:c.2482C>T MANE Select	ENSP00000375867.2:p.Leu828=
ENST00000344528.8:c.2482C>T	ENSP00000340237.4:p.Leu828=
ENST00000392011.6:c.2482C>T	ENSP00000375867.2:p.Leu828=
ENST00000409212.5:c.2482C>T	ENSP00000386862.1:p.Leu828=
NM_014521.2:c.2482C>T	NP_055336.1:p.Leu828=
XM_011510891.1:c.2482C>T	XP_011509193.1:p.Leu828=
XM_011510892.1:c.2482C>T	XP_011509194.1:p.Leu828=
XM_011510893.1:c.2482C>T	XP_011509195.1:p.Leu828=
XM_011510894.1:c.2482C>T	XP_011509196.1:p.Leu828=
XM_011510891.2:c.2482C>T	XP_011509193.1:p.Leu828=
XM_011510894.2:c.2482C>T	XP_011509196.1:p.Leu828=
NM_014521.3:c.2482C>T MANE Select	NP_055336.1:p.Leu828=
NM_001371302.1:c.2482C>T	NP_001358231.1:p.Leu828=
NM_001371303.1:c.2482C>T	NP_001358232.1:p.Leu828=
NM_001371304.1:c.2482C>T	NP_001358233.1:p.Leu828=
NM_001371305.1:c.2482C>T	NP_001358234.1:p.Leu828=
NM_001371306.1:c.2482C>T	NP_001358235.1:p.Leu828=