Canonical Allele Identifier: CA15648336
Gene: SH2D4B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80617834T>C , CM000672.2:g.80617834T>C GRCh38
NC_000010.10:g.82377590T>C , CM000672.1:g.82377590T>C GRCh37
NC_000010.9:g.82367570T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646907.2:c.988+8283T>C MANE Select ENSP00000494732.1:n.988+8283T>C
ENST00000646907.1:c.988+8283T>C ENSP00000494732.1:n.988+8283T>C
ENST00000313455.5:c.841+8283T>C ENSP00000314242.4:n.841+8283T>C
ENST00000339284.6:c.985+8283T>C ENSP00000345295.2:n.985+8283T>C
ENST00000372150.7:n.330+8283T>C
NM_001145719.1:c.841+8283T>C NP_001139191.1:n.841+8283T>C
NM_207372.2:c.985+8283T>C NP_997255.2:n.985+8283T>C
XM_017016236.1:c.838+8283T>C XP_016871725.1:n.838+8283T>C
NM_001388272.1:c.988+8283T>C MANE Select NP_001375201.1:n.988+8283T>C