Canonical Allele Identifier: CA361672146

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149038296-T-G
• MyVariant Identifiers: chr5:g.148417859T>G (hg19) ; chr5:g.149038296T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038296T>G , CM000667.2:g.149038296T>G	GRCh38
NC_000005.9:g.148417859T>G , CM000667.1:g.148417859T>G	GRCh37
NC_000005.8:g.148398052T>G	NCBI36
NG_007947.2:g.29879A>C , LRG_269:g.29879A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.890A>C
ENST00000515425.6:c.1000A>C MANE Select	ENSP00000423660.1:p.Met334Leu
ENST00000674655.1:c.262A>C	ENSP00000502840.1:p.Ile88Leu
ENST00000674983.1:c.*258A>C	ENSP00000502387.1:n.*258A>C
ENST00000675793.1:c.1000A>C	ENSP00000502039.1:p.Ile334Leu
ENST00000676056.1:c.*258A>C	ENSP00000501827.1:n.*258A>C
ENST00000323829.9:c.*258A>C	ENSP00000313025.5:n.*258A>C
ENST00000503071.1:n.467A>C
ENST00000504517.5:c.400A>C	ENSP00000421779.1:p.Met134Leu
ENST00000504690.5:c.1000A>C	ENSP00000425627.1:p.Met334Leu
ENST00000511307.5:c.*780A>C	ENSP00000421420.1:n.*780A>C
ENST00000512049.5:c.979A>C	ENSP00000421860.1:p.Met327Leu
ENST00000513604.5:c.*258A>C	ENSP00000423111.1:n.*258A>C
ENST00000515425.5:c.1000A>C	ENSP00000423660.1:p.Met334Leu
NM_024577.3:c.1000A>C , LRG_269t1:c.1000A>C	NP_078853.2:p.Met334Leu
NM_024577.4:c.1000A>C MANE Select	NP_078853.2:p.Met334Leu