Canonical Allele Identifier: CA365634784

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826378C>T (hg19) ; chr6:g.129505233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505233C>T , CM000668.2:g.129505233C>T	GRCh38
NC_000006.11:g.129826378C>T , CM000668.1:g.129826378C>T	GRCh37
NC_000006.10:g.129868071C>T	NCBI36
NG_008678.1:g.627093C>T , LRG_409:g.627093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.646C>T	ENSP00000510626.1:p.Leu216Phe
ENST00000498257.6:c.646C>T	ENSP00000510533.1:p.Leu216Phe
ENST00000617695.5:c.8569C>T	ENSP00000481744.2:p.Leu2857Phe
ENST00000618192.5:c.8845C>T	ENSP00000480802.2:p.Leu2949Phe
ENST00000688198.1:n.1559C>T
ENST00000688799.1:c.646C>T	ENSP00000508458.1:p.Leu216Phe
ENST00000690858.1:n.1575C>T
ENST00000693461.1:n.918C>T
ENST00000421865.3:c.8581C>T MANE Select	ENSP00000400365.2:p.Leu2861Phe
ENST00000421865.2:c.8581C>T	ENSP00000400365.2:p.Leu2861Phe
ENST00000617695.4:c.8569C>T	ENSP00000481744.1:p.Leu2857Phe
ENST00000618192.4:c.8578C>T	ENSP00000480802.1:p.Leu2860Phe
NM_000426.3:c.8581C>T , LRG_409t1:c.8581C>T	NP_000417.2:p.Leu2861Phe
NM_001079823.1:c.8569C>T	NP_001073291.1:p.Leu2857Phe
XM_005266981.2:c.8845C>T	XP_005267038.1:p.Leu2949Phe
XM_005266982.2:c.8833C>T	XP_005267039.1:p.Leu2945Phe
XM_011535820.1:c.8839C>T	XP_011534122.1:p.Leu2947Phe
XR_942984.1:n.1461-2442G>A
XR_942985.1:n.1325-2442G>A
XM_005266981.3:c.8845C>T	XP_005267038.1:p.Leu2949Phe
XM_005266982.3:c.8833C>T	XP_005267039.1:p.Leu2945Phe
XM_011535820.2:c.8839C>T	XP_011534122.1:p.Leu2947Phe
XM_017010851.2:c.8851C>T	XP_016866340.1:p.Leu2951Phe
XM_017010852.1:c.6976C>T	XP_016866341.1:p.Leu2326Phe
XR_001743859.1:n.3901-2442G>A
XR_001743860.1:n.1180-2442G>A
XR_001743861.1:n.1347-2442G>A
XR_001743863.1:n.883-2442G>A
XR_002956395.1:n.9132-2442G>A
XR_002956396.1:n.3127-2442G>A
NM_000426.4:c.8581C>T MANE Select	NP_000417.3:p.Leu2861Phe
NM_001079823.2:c.8569C>T	NP_001073291.2:p.Leu2857Phe