Canonical Allele Identifier: CA390517775

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753151A>G (hg19) ; chr14:g.77286808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286808A>G , CM000676.2:g.77286808A>G	GRCh38
NC_000014.8:g.77753151A>G , CM000676.1:g.77753151A>G	GRCh37
NC_000014.7:g.76822904A>G	NCBI36
NG_008897.1:g.39075T>C , LRG_844:g.39075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.809T>C	ENSP00000451967.2:p.Leu270Ser
ENST00000682247.1:c.1268T>C	ENSP00000507213.1:p.Leu423Ser
ENST00000682382.1:c.840T>C
ENST00000682395.1:n.1446T>C
ENST00000682459.1:n.971T>C
ENST00000682467.1:c.1268T>C	ENSP00000508062.1:p.Leu423Ser
ENST00000682706.1:n.45T>C
ENST00000682795.1:c.1268T>C	ENSP00000507574.1:p.Leu423Ser
ENST00000682895.1:n.984T>C
ENST00000682955.1:n.556T>C
ENST00000683188.1:c.1243T>C
ENST00000683328.1:c.261T>C	ENSP00000508096.1:n.261T>C
ENST00000683380.1:n.932T>C
ENST00000683828.1:c.977T>C
ENST00000684259.1:n.1119T>C
ENST00000684444.1:c.15T>C
ENST00000684549.1:n.819T>C
ENST00000261534.9:c.1268T>C MANE Select	ENSP00000261534.4:p.Leu423Ser
ENST00000261534.8:c.1268T>C	ENSP00000261534.4:p.Leu423Ser
ENST00000452340.7:n.1291T>C
ENST00000553880.5:n.139T>C
ENST00000554767.5:n.2054T>C
ENST00000554884.5:n.260T>C
ENST00000556404.1:n.402T>C
ENST00000556851.1:n.304T>C
ENST00000557675.5:n.358T>C
NM_013382.5:c.1268T>C , LRG_844t1:c.1268T>C	NP_037514.2:p.Leu423Ser
XM_011536675.1:c.1268T>C	XP_011534977.1:p.Leu423Ser
XM_011536676.1:c.935T>C	XP_011534978.1:p.Leu312Ser
XM_011536677.1:c.809T>C	XP_011534979.1:p.Leu270Ser
XM_011536678.1:c.1268T>C	XP_011534980.1:p.Leu423Ser
XM_011536679.1:c.362T>C	XP_011534981.1:p.Leu121Ser
XR_943416.1:n.1471T>C
XM_011536675.2:c.1268T>C	XP_011534977.1:p.Leu423Ser
XM_011536676.2:c.935T>C	XP_011534978.1:p.Leu312Ser
XM_011536677.3:c.809T>C	XP_011534979.1:p.Leu270Ser
XR_001750279.1:n.1468T>C
XR_001750282.1:n.1921T>C
XR_943416.3:n.1469T>C
NM_013382.6:c.1268T>C	NP_037514.2:p.Leu423Ser
NM_013382.7:c.1268T>C MANE Select	NP_037514.2:p.Leu423Ser