Canonical Allele Identifier: CA3498674

Gene: SH3TC2

Linked Data

• dbSNP Id: rs764665807
• ExAC: 5:148386512 G / C
• gnomAD v2: 5-148386512-G-C
• gnomAD v4: 5-149006949-G-C
• MyVariant Identifiers: chr5:g.148386512G>C (hg19) ; chr5:g.149006949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006949G>C , CM000667.2:g.149006949G>C	GRCh38
NC_000005.9:g.148386512G>C , CM000667.1:g.148386512G>C	GRCh37
NC_000005.8:g.148366705G>C	NCBI36
NG_007947.2:g.61226C>G , LRG_269:g.61226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4460C>G
ENST00000515425.6:c.3607C>G MANE Select	ENSP00000423660.1:p.Pro1203Ala
ENST00000675793.1:c.*4664C>G	ENSP00000502039.1:n.*4664C>G
ENST00000323829.9:c.*2995C>G	ENSP00000313025.5:n.*2995C>G
ENST00000502274.1:c.193C>G	ENSP00000421092.1:p.Pro65Ala
ENST00000504517.5:c.3129C>G	ENSP00000421779.1:n.3129C>G
ENST00000504690.5:c.3607C>G	ENSP00000425627.1:p.Pro1203Ala
ENST00000510350.1:n.163C>G
ENST00000510779.1:c.2657C>G
ENST00000512049.5:c.3586C>G	ENSP00000421860.1:p.Pro1196Ala
ENST00000515229.5:n.269C>G
ENST00000515425.5:c.3607C>G	ENSP00000423660.1:p.Pro1203Ala
NM_024577.3:c.3607C>G , LRG_269t1:c.3607C>G	NP_078853.2:p.Pro1203Ala
NM_024577.4:c.3607C>G MANE Select	NP_078853.2:p.Pro1203Ala