Canonical Allele Identifier: CA15802935

Gene: POMT2

Linked Data

• dbSNP Id: rs7160195
• gnomAD v2: 14-77786375-G-A
• gnomAD v3: 14-77320032-G-A
• gnomAD v4: 14-77320032-G-A
• MyVariant Identifiers: chr14:g.77786375G>A (hg19) ; chr14:g.77320032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77320032G>A , CM000676.2:g.77320032G>A	GRCh38
NC_000014.8:g.77786375G>A , CM000676.1:g.77786375G>A	GRCh37
NC_000014.7:g.76856128G>A	NCBI36
NG_008897.1:g.5851C>T , LRG_844:g.5851C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556394.2:c.248+402C>T	ENSP00000451967.2:n.248+402C>T
ENST00000682247.1:c.248+402C>T	ENSP00000507213.1:n.248+402C>T
ENST00000682382.1:c.196+402C>T
ENST00000682467.1:c.248+402C>T	ENSP00000508062.1:n.248+402C>T
ENST00000682795.1:c.248+402C>T	ENSP00000507574.1:n.248+402C>T
ENST00000683188.1:c.43+402C>T
ENST00000683828.1:c.117+402C>T
ENST00000684344.1:c.*68+330C>T	ENSP00000507432.1:n.*68+330C>T
ENST00000684534.1:n.271+402C>T
ENST00000261534.9:c.248+402C>T MANE Select	ENSP00000261534.4:n.248+402C>T
ENST00000261534.8:c.248+402C>T	ENSP00000261534.4:n.248+402C>T
ENST00000452340.7:n.271+402C>T
ENST00000554948.1:c.-122+276C>T	ENSP00000452060.1:n.-122+276C>T
ENST00000556326.5:c.248+402C>T	ENSP00000450630.1:n.248+402C>T
NM_013382.5:c.248+402C>T , LRG_844t1:c.248+402C>T	NP_037514.2:n.248+402C>T
XM_011536675.1:c.248+402C>T	XP_011534977.1:n.248+402C>T
XM_011536676.1:c.-1+402C>T	XP_011534978.1:n.-1+402C>T
XM_011536677.1:c.248+402C>T	XP_011534979.1:n.248+402C>T
XM_011536678.1:c.248+402C>T	XP_011534980.1:n.248+402C>T
XM_011536680.1:c.248+402C>T	XP_011534982.1:n.248+402C>T
XR_943416.1:n.451+402C>T
XM_011536675.2:c.248+402C>T	XP_011534977.1:n.248+402C>T
XM_011536676.2:c.-1+402C>T	XP_011534978.1:n.-1+402C>T
XM_011536677.3:c.248+402C>T	XP_011534979.1:n.248+402C>T
XR_001750279.1:n.448+402C>T
XR_001750282.1:n.452+402C>T
XR_943416.3:n.449+402C>T
NM_013382.6:c.248+402C>T	NP_037514.2:n.248+402C>T
NM_013382.7:c.248+402C>T MANE Select	NP_037514.2:n.248+402C>T