Canonical Allele Identifier: CA051962

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129502696T>C , CM000668.2:g.129502696T>C	GRCh38
NC_000006.11:g.129823841T>C , CM000668.1:g.129823841T>C	GRCh37
NC_000006.10:g.129865534T>C	NCBI36
NG_008678.1:g.624556T>C , LRG_409:g.624556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.347T>C	ENSP00000510626.1:p.Ile116Thr
ENST00000498257.6:c.347T>C	ENSP00000510533.1:p.Ile116Thr
ENST00000617695.5:c.8270T>C	ENSP00000481744.2:p.Ile2757Thr
ENST00000618192.5:c.8546T>C	ENSP00000480802.2:p.Ile2849Thr
ENST00000688198.1:n.1260T>C
ENST00000688799.1:c.347T>C	ENSP00000508458.1:p.Ile116Thr
ENST00000690858.1:n.1276T>C
ENST00000693461.1:n.619T>C
ENST00000421865.3:c.8282T>C MANE Select	ENSP00000400365.2:p.Ile2761Thr
ENST00000421865.2:c.8282T>C	ENSP00000400365.2:p.Ile2761Thr
ENST00000617695.4:c.8270T>C	ENSP00000481744.1:p.Ile2757Thr
ENST00000618192.4:c.8279T>C	ENSP00000480802.1:p.Ile2760Thr
NM_000426.3:c.8282T>C , LRG_409t1:c.8282T>C	NP_000417.2:p.Ile2761Thr
NM_001079823.1:c.8270T>C	NP_001073291.1:p.Ile2757Thr
XM_005266981.2:c.8546T>C	XP_005267038.1:p.Ile2849Thr
XM_005266982.2:c.8534T>C	XP_005267039.1:p.Ile2845Thr
XM_011535820.1:c.8540T>C	XP_011534122.1:p.Ile2847Thr
XM_005266981.3:c.8546T>C	XP_005267038.1:p.Ile2849Thr
XM_005266982.3:c.8534T>C	XP_005267039.1:p.Ile2845Thr
XM_011535820.2:c.8540T>C	XP_011534122.1:p.Ile2847Thr
XM_017010851.2:c.8552T>C	XP_016866340.1:p.Ile2851Thr
XM_017010852.1:c.6677T>C	XP_016866341.1:p.Ile2226Thr
XR_001743859.1:n.3996A>G
XR_001743860.1:n.1275A>G
XR_001743861.1:n.1442A>G
XR_001743863.1:n.978A>G
XR_002956395.1:n.9227A>G
XR_002956396.1:n.3222A>G
NM_000426.4:c.8282T>C MANE Select	NP_000417.3:p.Ile2761Thr
NM_001079823.2:c.8270T>C	NP_001073291.2:p.Ile2757Thr