Canonical Allele Identifier: CA608507033

Gene: TCTN2

Linked Data

• dbSNP Id: rs1415437703
• gnomAD v2: 12-124171337-G-C
• gnomAD v3: 12-123686790-G-C
• gnomAD v4: 12-123686790-G-C
• MyVariant Identifiers: chr12:g.124171337G>C (hg19) ; chr12:g.123686790G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686790G>C , CM000674.2:g.123686790G>C	GRCh38
NC_000012.11:g.124171337G>C , CM000674.1:g.124171337G>C	GRCh37
NC_000012.10:g.122737290G>C	NCBI36
NG_030442.1:g.20678G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.565-46G>C MANE Select	ENSP00000304941.5:n.565-46G>C
ENST00000679504.1:c.562-46G>C	ENSP00000505006.1:n.562-46G>C
ENST00000680500.1:c.565-46G>C	ENSP00000506438.1:n.565-46G>C
ENST00000680574.1:c.565-46G>C	ENSP00000505356.1:n.565-46G>C
ENST00000303372.6:c.565-46G>C	ENSP00000304941.5:n.565-46G>C
ENST00000426174.6:c.562-46G>C	ENSP00000395171.2:n.562-46G>C
NM_001143850.2:c.562-46G>C	NP_001137322.1:n.562-46G>C
NM_024809.4:c.565-46G>C	NP_079085.2:n.565-46G>C
XM_005253623.2:c.565-46G>C	XP_005253680.1:n.565-46G>C
XM_006719605.2:c.565-46G>C	XP_006719668.1:n.565-46G>C
XM_006719605.3:c.565-46G>C	XP_006719668.1:n.565-46G>C
XM_017019974.1:c.562-46G>C	XP_016875463.1:n.562-46G>C
XM_017019975.1:c.-221-46G>C	XP_016875464.1:n.-221-46G>C
NM_024809.5:c.565-46G>C MANE Select	NP_079085.2:n.565-46G>C
NM_001143850.3:c.562-46G>C	NP_001137322.1:n.562-46G>C