Canonical Allele Identifier: CA3994790

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129502712C>T , CM000668.2:g.129502712C>T	GRCh38
NC_000006.11:g.129823857C>T , CM000668.1:g.129823857C>T	GRCh37
NC_000006.10:g.129865550C>T	NCBI36
NG_008678.1:g.624572C>T , LRG_409:g.624572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.363C>T	ENSP00000510626.1:p.Phe121=
ENST00000498257.6:c.363C>T	ENSP00000510533.1:p.Phe121=
ENST00000617695.5:c.8286C>T	ENSP00000481744.2:p.Phe2762=
ENST00000618192.5:c.8562C>T	ENSP00000480802.2:p.Phe2854=
ENST00000688198.1:n.1276C>T
ENST00000688799.1:c.363C>T	ENSP00000508458.1:p.Phe121=
ENST00000690858.1:n.1292C>T
ENST00000693461.1:n.635C>T
ENST00000421865.3:c.8298C>T MANE Select	ENSP00000400365.2:p.Phe2766=
ENST00000421865.2:c.8298C>T	ENSP00000400365.2:p.Phe2766=
ENST00000617695.4:c.8286C>T	ENSP00000481744.1:p.Phe2762=
ENST00000618192.4:c.8295C>T	ENSP00000480802.1:p.Phe2765=
NM_000426.3:c.8298C>T , LRG_409t1:c.8298C>T	NP_000417.2:p.Phe2766=
NM_001079823.1:c.8286C>T	NP_001073291.1:p.Phe2762=
XM_005266981.2:c.8562C>T	XP_005267038.1:p.Phe2854=
XM_005266982.2:c.8550C>T	XP_005267039.1:p.Phe2850=
XM_011535820.1:c.8556C>T	XP_011534122.1:p.Phe2852=
XR_942984.1:n.1540G>A
XR_942985.1:n.1404G>A
XM_005266981.3:c.8562C>T	XP_005267038.1:p.Phe2854=
XM_005266982.3:c.8550C>T	XP_005267039.1:p.Phe2850=
XM_011535820.2:c.8556C>T	XP_011534122.1:p.Phe2852=
XM_017010851.2:c.8568C>T	XP_016866340.1:p.Phe2856=
XM_017010852.1:c.6693C>T	XP_016866341.1:p.Phe2231=
XR_001743859.1:n.3980G>A
XR_001743860.1:n.1259G>A
XR_001743861.1:n.1426G>A
XR_001743863.1:n.962G>A
XR_002956395.1:n.9211G>A
XR_002956396.1:n.3206G>A
NM_000426.4:c.8298C>T MANE Select	NP_000417.3:p.Phe2766=
NM_001079823.2:c.8286C>T	NP_001073291.2:p.Phe2762=