Canonical Allele Identifier: CA451926496

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129465279-T-C
• MyVariant Identifiers: chr6:g.129786424T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465279T>C , CM000668.2:g.129465279T>C	GRCh38
NC_000006.11:g.129786424T>C , CM000668.1:g.129786424T>C	GRCh37
NC_000006.10:g.129828117T>C	NCBI36
NG_008678.1:g.587139T>C , LRG_409:g.587139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7290T>C	ENSP00000481744.2:p.Ile2430=
ENST00000618192.5:c.7554T>C	ENSP00000480802.2:p.Ile2518=
ENST00000684985.1:n.921T>C
ENST00000421865.3:c.7290T>C MANE Select	ENSP00000400365.2:p.Ile2430=
ENST00000421865.2:c.7290T>C	ENSP00000400365.2:p.Ile2430=
ENST00000617695.4:c.7290T>C	ENSP00000481744.1:p.Ile2430=
ENST00000618192.4:c.7287T>C	ENSP00000480802.1:p.Ile2429=
NM_000426.3:c.7290T>C , LRG_409t1:c.7290T>C	NP_000417.2:p.Ile2430=
NM_001079823.1:c.7290T>C	NP_001073291.1:p.Ile2430=
XM_005266981.2:c.7554T>C	XP_005267038.1:p.Ile2518=
XM_005266982.2:c.7554T>C	XP_005267039.1:p.Ile2518=
XM_011535820.1:c.7548T>C	XP_011534122.1:p.Ile2516=
XM_005266981.3:c.7554T>C	XP_005267038.1:p.Ile2518=
XM_005266982.3:c.7554T>C	XP_005267039.1:p.Ile2518=
XM_011535820.2:c.7548T>C	XP_011534122.1:p.Ile2516=
XM_017010851.2:c.7560T>C	XP_016866340.1:p.Ile2520=
XM_017010852.1:c.5685T>C	XP_016866341.1:p.Ile1895=
NM_000426.4:c.7290T>C MANE Select	NP_000417.3:p.Ile2430=
NM_001079823.2:c.7290T>C	NP_001073291.2:p.Ile2430=