Canonical Allele Identifier: CA390513956

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278791-A-G
• MyVariant Identifiers: chr14:g.77745134A>G (hg19) ; chr14:g.77278791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278791A>G , CM000676.2:g.77278791A>G	GRCh38
NC_000014.8:g.77745134A>G , CM000676.1:g.77745134A>G	GRCh37
NC_000014.7:g.76814887A>G	NCBI36
NG_008897.1:g.47092T>C , LRG_844:g.47092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.895T>C
ENST00000556394.2:c.1511T>C	ENSP00000451967.2:p.Met504Thr
ENST00000682128.1:c.271T>C	ENSP00000506976.1:n.271T>C
ENST00000682247.1:c.1959T>C	ENSP00000507213.1:p.Asp653=
ENST00000682395.1:n.2434T>C
ENST00000682459.1:n.1673T>C
ENST00000682467.1:c.1892-283T>C	ENSP00000508062.1:n.1892-283T>C
ENST00000682615.1:n.324T>C
ENST00000682795.1:c.2117T>C	ENSP00000507574.1:p.Met706Thr
ENST00000682895.1:n.1686T>C
ENST00000682955.1:n.1544T>C
ENST00000683095.1:c.376T>C	ENSP00000508040.1:n.376T>C
ENST00000683188.1:c.2231T>C
ENST00000683380.1:n.1634T>C
ENST00000683828.1:c.1679T>C
ENST00000683907.1:c.235T>C	ENSP00000507754.1:n.235T>C
ENST00000684172.1:c.346T>C	ENSP00000508391.1:n.346T>C
ENST00000684259.1:n.3737T>C
ENST00000684538.1:n.1349T>C
ENST00000684549.1:n.1521T>C
ENST00000261534.9:c.1970T>C MANE Select	ENSP00000261534.4:p.Met657Thr
ENST00000261534.8:c.1970T>C	ENSP00000261534.4:p.Met657Thr
ENST00000452340.7:n.2946T>C
ENST00000554767.5:n.2756T>C
ENST00000555710.1:c.331T>C	ENSP00000451730.1:n.331T>C
ENST00000556171.1:c.562T>C
ENST00000556394.1:c.88-283T>C
ENST00000556446.1:n.271T>C
ENST00000602717.5:c.185T>C	ENSP00000487704.1:p.Met62Thr
NM_013382.5:c.1970T>C , LRG_844t1:c.1970T>C	NP_037514.2:p.Met657Thr
XM_011536675.1:c.2159T>C	XP_011534977.1:p.Met720Thr
XM_011536676.1:c.1826T>C	XP_011534978.1:p.Met609Thr
XM_011536677.1:c.1700T>C	XP_011534979.1:p.Met567Thr
XM_011536679.1:c.1253T>C	XP_011534981.1:p.Met418Thr
XR_943416.1:n.2223T>C
XM_011536675.2:c.2159T>C	XP_011534977.1:p.Met720Thr
XM_011536676.2:c.1826T>C	XP_011534978.1:p.Met609Thr
XM_011536677.3:c.1700T>C	XP_011534979.1:p.Met567Thr
XR_001750279.1:n.2256T>C
XR_001750282.1:n.2909T>C
XR_943416.3:n.2221T>C
NM_013382.6:c.1970T>C	NP_037514.2:p.Met657Thr
NM_013382.7:c.1970T>C MANE Select	NP_037514.2:p.Met657Thr